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Novel FOXF1 Mutatio...
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
- Article/chapterEnglish2013
Publisher, publication year, extent ...
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2013-04-12
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Hindawi Limited,2013
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:9c8c845f-c972-4886-9b79-ff3bb1043fe3
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https://lup.lub.lu.se/record/3931483URI
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https://doi.org/10.1002/humu.22313DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
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Added entries (persons, corporate bodies, meetings, titles ...)
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Yang, Yaping
(author)
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Navarro, Colby
(author)
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Silva, Iris
(author)
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Szafranski, Przemyslaw
(author)
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Kolodziejska, Katarzyna E.
(author)
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Dharmadhikari, Avinash V.
(author)
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Mostafa, Hasnaa
(author)
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Kozakewich, Harry
(author)
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Kearney, Debra
(author)
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Cahill, John B.
(author)
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Whitt, Merrissa
(author)
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Bilic, Masha
(author)
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Margraf, Linda
(author)
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Charles, Adrian
(author)
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Goldblatt, Jack
(author)
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Gibson, Kathleen
(author)
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Lantz, Patrick E.
(author)
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Garvin, A. Julian
(author)
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Petty, John
(author)
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Kiblawi, Zeina
(author)
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Zuppan, Craig
(author)
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McConkie-Rosell, Allyn
(author)
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McDonald, Marie T.
(author)
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Peterson-Carmichael, Stacey L.
(author)
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Gaede, Jane T.
(author)
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Shivanna, Binoy
(author)
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Schady, Deborah
(author)
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Friedlich, Philippe S.
(author)
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Hays, Stephen R.
(author)
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Palafoll, Irene Valenzuela
(author)
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Siebers-Renelt, Ulrike
(author)
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Bohring, Axel
(author)
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Finn, Laura S.
(author)
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Siebert, Joseph R.
(author)
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Galambos, Csaba
(author)
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Nguyen, Lananh
(author)
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Riley, Melissa
(author)
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Chassaing, Nicolas
(author)
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Vigouroux, Adeline
(author)
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Rocha, Gustavo
(author)
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Fernandes, Susana
(author)
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Brumbaugh, Jane
(author)
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Roberts, Kari
(author)
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Luk, Ho-ming
(author)
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Lo, Ivan F. M.
(author)
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Lam, Stephen
(author)
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Gerychova, Romana
(author)
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Jezova, Marta
(author)
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Valaskova, Iveta
(author)
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Fellmann, Florence
(author)
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Afshar, Katayoun
(author)
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Giannoni, Eric
(author)
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Muhlethaler, Vincent
(author)
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Liang, Jinlong
(author)
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Beckmann, Jacques S.
(author)
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Lioy, Janet
(author)
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Deshmukh, Hitesh
(author)
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Srinivasan, Lakshmi
(author)
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Swarr, Daniel T.
(author)
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Sloman, Melissa
(author)
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Shaw-Smith, Charles
(author)
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van Loon, Rosa Laura
(author)
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Hagman, CeciliaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-cha
(author)
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Sznajer, Yves
(author)
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Barrea, Catherine
(author)
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Galant, Christine
(author)
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Detaille, Thierry
(author)
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Wambach, Jennifer A.
(author)
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Cole, F. Sessions
(author)
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Hamvas, Aaron
(author)
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Prince, Lawrence S.
(author)
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Diderich, Karin E. M.
(author)
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Brooks, Alice S.
(author)
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Verdijk, Robert M.
(author)
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Ravindranathan, Hari
(author)
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Sugo, Ella
(author)
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Mowat, David
(author)
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Baker, Michael L.
(author)
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Langston, Claire
(author)
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Welty, Stephen
(author)
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Stankiewicz, Pawel
(author)
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Pediatrik, LundSektion V
(creator_code:org_t)
Related titles
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In:Human Mutation: Hindawi Limited34:6, s. 801-8111059-7794
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- By the author/editor
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Sen, Partha
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Yang, Yaping
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Navarro, Colby
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Silva, Iris
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Szafranski, Prze ...
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Kolodziejska, Ka ...
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show more...
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Dharmadhikari, A ...
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Mostafa, Hasnaa
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Kozakewich, Harr ...
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Kearney, Debra
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Cahill, John B.
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Whitt, Merrissa
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Bilic, Masha
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Margraf, Linda
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Charles, Adrian
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Goldblatt, Jack
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Gibson, Kathleen
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Lantz, Patrick E ...
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Garvin, A. Julia ...
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Petty, John
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Kiblawi, Zeina
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Zuppan, Craig
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McConkie-Rosell, ...
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McDonald, Marie ...
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Peterson-Carmich ...
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Gaede, Jane T.
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Shivanna, Binoy
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Schady, Deborah
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Friedlich, Phili ...
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Hays, Stephen R.
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Palafoll, Irene ...
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Siebers-Renelt, ...
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Bohring, Axel
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Finn, Laura S.
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Siebert, Joseph ...
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Galambos, Csaba
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Nguyen, Lananh
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Riley, Melissa
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Chassaing, Nicol ...
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Vigouroux, Adeli ...
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Rocha, Gustavo
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Fernandes, Susan ...
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Brumbaugh, Jane
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Roberts, Kari
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Luk, Ho-ming
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Lo, Ivan F. M.
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Lam, Stephen
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Gerychova, Roman ...
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Jezova, Marta
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Valaskova, Iveta
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Fellmann, Floren ...
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Afshar, Katayoun
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Giannoni, Eric
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Muhlethaler, Vin ...
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Liang, Jinlong
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Beckmann, Jacque ...
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Lioy, Janet
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Deshmukh, Hitesh
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Srinivasan, Laks ...
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Swarr, Daniel T.
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Sloman, Melissa
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Shaw-Smith, Char ...
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van Loon, Rosa L ...
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Hagman, Cecilia
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Sznajer, Yves
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Barrea, Catherin ...
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Galant, Christin ...
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Detaille, Thierr ...
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Wambach, Jennife ...
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Cole, F. Session ...
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Hamvas, Aaron
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Prince, Lawrence ...
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Diderich, Karin ...
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Brooks, Alice S.
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Verdijk, Robert ...
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Ravindranathan, ...
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Sugo, Ella
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Mowat, David
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Baker, Michael L ...
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Langston, Claire
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Welty, Stephen
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Stankiewicz, Paw ...
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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 Basic Medicine
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and Medical Genetics
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Human Mutation
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Lund University