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A Genome-Wide Scan ...
A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity.
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Frayling, Timothy M. (author)
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- Lindgren, Cecilia (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine
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Chevre, Jean Claude (author)
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Menzel, Stephan (author)
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Wishart, Marie (author)
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Benmezroua, Yamina (author)
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Brown, Alison (author)
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Evans, Julie C. (author)
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Rao, Pamidghantam Subba (author)
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Dina, Christian (author)
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Lecoeur, Cécile (author)
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Kanninen, Timo (author)
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- Almgren, Peter (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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Bulman, Michael P. (author)
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Wang, Youxiang (author)
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Mills, James (author)
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Wright-Pascoe, Rosemarie (author)
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Mahtani, Melanie M. (author)
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Prisco, Francesco (author)
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Costa, Angels (author)
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Cognet, Ignacio (author)
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Hansen, Torben (author)
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Pedersen, Oluf (author)
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Ellard, Sian (author)
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- Tuomi, Tiinamaija (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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- 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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Froguel, Philippe (author)
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Hattersley, Andrew T. (author)
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Vaxillaire, Martine (author)
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(creator_code:org_t)
- American Diabetes Association, 2003
- 2003
- English.
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In: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 52:3, s. 872-881
- Related links:
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http://www.ncbi.nlm.... (free)
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http://dx.doi.org/10... (free)
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http://diabetes.diab...
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https://lup.lub.lu.s...
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https://doi.org/10.2...
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Abstract
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- Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15–20% of families fitting MODY criteria do not have mutations in any of the known genes. These families provide a rich resource for the identification of new MODY genes. This will potentially enable further dissection of clinical heterogeneity and bring new insights into mechanisms of β-cell dysfunction. To facilitate the identification of novel MODY loci, we combined the results from three genome-wide scans on a total of 23 families fitting MODY criteria. We used both a strict parametric model of inheritance with heterogeneity and a model-free analysis. We did not identify any single novel locus but provided putative evidence for linkage to chromosomes 6 (nonparametric linkage [NPL]score 2.12 at 71 cM) and 10 (NPL score 1.88 at 169–175 cM), and to chromosomes 3 (heterogeneity LOD [HLOD] score 1.27 at 124 cM) and 5 (HLOD score 1.22 at 175 cM) in 14 more strictly defined families. Our results provide evidence for further heterogeneity in MODY.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
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Diabetes
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- By the author/editor
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Frayling, Timoth ...
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Lindgren, Cecili ...
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Chevre, Jean Cla ...
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Menzel, Stephan
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Wishart, Marie
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Benmezroua, Yami ...
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show more...
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Brown, Alison
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Evans, Julie C.
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Rao, Pamidghanta ...
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Dina, Christian
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Lecoeur, Cécile
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Kanninen, Timo
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Almgren, Peter
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Bulman, Michael ...
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Wang, Youxiang
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Mills, James
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Wright-Pascoe, R ...
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Mahtani, Melanie ...
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Prisco, Francesc ...
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Costa, Angels
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Cognet, Ignacio
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Hansen, Torben
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Pedersen, Oluf
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Ellard, Sian
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Tuomi, Tiinamaij ...
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Groop, Leif
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Froguel, Philipp ...
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Hattersley, Andr ...
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Vaxillaire, Mart ...
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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 Clinical Medicin ...
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and Endocrinology an ...
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Diabetes
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Lund University