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New susceptibility ...
New susceptibility loci associated with kidney disease in type 1 diabetes
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Sandholm, Niina (author)
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Salem, Rany M. (author)
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McKnight, Amy Jayne (author)
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show more...
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Brennan, Eoin P. (author)
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Forsblom, Carol (author)
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Isakova, Tamara (author)
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McKay, Gareth J. (author)
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Williams, Winfred W. (author)
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Sadlier, Denise M. (author)
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Makinen, Ville-Petteri (author)
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Swan, Elizabeth J. (author)
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Palmer, Cameron (author)
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Boright, Andrew P. (author)
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- Ahlqvist, Emma (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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Deshmukh, Harshal A. (author)
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Keller, Benjamin J. (author)
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- Huang, Huateng (author)
- Karolinska Institutet
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Ahola, Aila J. (author)
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Fagerholm, Emma (author)
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Gordin, Daniel (author)
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Harjutsalo, Valma (author)
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- He, Bing (author)
- Karolinska Institutet
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Heikkila, Outi (author)
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Hietala, Kustaa (author)
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Kyto, Janne (author)
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Lahermo, Paivi (author)
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Lehto, Markku (author)
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Lithovius, Raija (author)
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- Osterholm, Anne-May (author)
- Karolinska Institutet
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Parkkonen, Maija (author)
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Pitkaniemi, Janne (author)
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Rosengard-Barlund, Milla (author)
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Saraheimo, Markku (author)
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Sarti, Cinzia (author)
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Soderlund, Jenny (author)
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Soro-Paavonen, Aino (author)
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Syreeni, Anna (author)
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Thorn, Lena M. (author)
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Tikkanen, Heikki (author)
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Tolonen, Nina (author)
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- Tryggvason, Karl (author)
- Karolinska Institutet
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Tuomilehto, Jaakko (author)
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Waden, Johan (author)
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Gill, Geoffrey V. (author)
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Prior, Sarah (author)
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Guiducci, Candace (author)
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Mirel, Daniel B. (author)
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Taylor, Andrew (author)
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Hosseini, S. Mohsen (author)
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Parving, Hans-Henrik (author)
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Rossing, Peter (author)
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Tarnow, Lise (author)
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- Ladenvall, Claes (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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Alhenc-Gelas, Francois (author)
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Lefebvre, Pierre (author)
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Rigalleau, Vincent (author)
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Roussel, Ronan (author)
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Tregouet, David-Alexandre (author)
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Maestroni, Anna (author)
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Maestroni, Silvia (author)
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Falhammar, Henrik (author)
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Gu, Tianwei (author)
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- Mollsten, Anna (author)
- Umeå universitet,Pediatrik
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Cimponeriu, Danut (author)
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Ioana, Mihai (author)
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Mota, Maria (author)
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Mota, Eugen (author)
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Serafinceanu, Cristian (author)
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Stavarachi, Monica (author)
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Hanson, Robert L. (author)
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Nelson, Robert G. (author)
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Kretzler, Matthias (author)
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Colhoun, Helen M. (author)
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Panduru, Nicolae Mircea (author)
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Gu, Harvest F. (author)
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- Brismar, Kerstin (author)
- Karolinska Institutet
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Zerbini, Gianpaolo (author)
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Hadjadj, Samy (author)
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Marre, Michel (author)
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- Groop, Leif (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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Lajer, Maria (author)
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Bull, Shelley B. (author)
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Waggott, Daryl (author)
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Paterson, Andrew D. (author)
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Savage, David A. (author)
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Bain, Stephen C. (author)
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Martin, Finian (author)
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Hirschhorn, Joel N. (author)
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Godson, Catherine (author)
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Florez, Jose C. (author)
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Groop, Per-Henrik (author)
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Maxwell, Alexander P. (author)
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(creator_code:org_t)
- 2012-09-20
- 2012
- English.
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In: PLOS Genetics. - San Francisco, USA : Public Library of Science, PLOS. - 1553-7390 .- 1553-7404. ; 8:9, s. e1002921-
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https://portal.resea... (primary) (free)
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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Abstract
Subject headings
Close
- Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE) consortium, we have undertaken a meta-analysis of genomewide association studies (GWAS) of T1D DN comprising similar to 2.4 million single nucleotide polymorphisms (SNPs) imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 x 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 x 10(-9)). Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-beta 1) pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 x 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Public Health, Global Health, Social Medicine and Epidemiology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- GENOME-WIDE ASSOCIATION
- RENAL-FUNCTION
- NATURAL-HISTORY
- COLLAGEN CHAINS
- AF4/FMR2 FAMILY
- GROWTH-FACTOR
- NEPHROPATHY
- EXPRESSION
- RISK
- GENE
- genetik
- Genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Sandholm, Niina
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Salem, Rany M.
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McKnight, Amy Ja ...
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Brennan, Eoin P.
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Forsblom, Carol
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Isakova, Tamara
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show more...
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McKay, Gareth J.
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Williams, Winfre ...
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Sadlier, Denise ...
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Makinen, Ville-P ...
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Swan, Elizabeth ...
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Palmer, Cameron
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Boright, Andrew ...
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Ahlqvist, Emma
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Deshmukh, Harsha ...
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Keller, Benjamin ...
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Huang, Huateng
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Ahola, Aila J.
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Fagerholm, Emma
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Gordin, Daniel
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Harjutsalo, Valm ...
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He, Bing
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Heikkila, Outi
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Hietala, Kustaa
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Kyto, Janne
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Lahermo, Paivi
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Lehto, Markku
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Lithovius, Raija
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Osterholm, Anne- ...
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Parkkonen, Maija
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Pitkaniemi, Jann ...
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Rosengard-Barlun ...
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Saraheimo, Markk ...
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Sarti, Cinzia
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Soderlund, Jenny
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Soro-Paavonen, A ...
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Syreeni, Anna
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Thorn, Lena M.
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Tikkanen, Heikki
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Tolonen, Nina
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Tryggvason, Karl
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Tuomilehto, Jaak ...
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Waden, Johan
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Gill, Geoffrey V ...
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Prior, Sarah
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Guiducci, Candac ...
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Mirel, Daniel B.
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Taylor, Andrew
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Hosseini, S. Moh ...
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Parving, Hans-He ...
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Rossing, Peter
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Tarnow, Lise
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Ladenvall, Claes
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Alhenc-Gelas, Fr ...
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Lefebvre, Pierre
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Rigalleau, Vince ...
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Roussel, Ronan
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Tregouet, David- ...
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Maestroni, Anna
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Maestroni, Silvi ...
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Falhammar, Henri ...
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Gu, Tianwei
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Mollsten, Anna
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Cimponeriu, Danu ...
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Ioana, Mihai
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Mota, Maria
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Mota, Eugen
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Serafinceanu, Cr ...
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Stavarachi, Moni ...
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Hanson, Robert L ...
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Nelson, Robert G ...
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Kretzler, Matthi ...
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Colhoun, Helen M ...
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Panduru, Nicolae ...
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Gu, Harvest F.
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Brismar, Kerstin
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Zerbini, Gianpao ...
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Hadjadj, Samy
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Marre, Michel
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Groop, Leif
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Lajer, Maria
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Bull, Shelley B.
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Waggott, Daryl
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Paterson, Andrew ...
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Savage, David A.
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Bain, Stephen C.
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Martin, Finian
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Hirschhorn, Joel ...
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Godson, Catherin ...
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Florez, Jose C.
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Groop, Per-Henri ...
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Maxwell, Alexand ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Public Health Gl ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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PLOS Genetics
- By the university
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Umeå University
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Lund University
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Karolinska Institutet