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Publication Type
Journal Article
Author, Analytic
Frayling, T. M. ; Lindgren, C. M. ; Chevre, J. C. ; Menzel, S. ; Wishart, M. ; Benmezroua, Y. ; Brown, A. ; Evans, J. C. ; Rao, P. S. ; Dina, C. ; Lecoeur, C. ; Kanninen, T. ; Almgren, P. ; Bulman, M. P. ; Wang, Y. ; Mills, James L.; Wright-Pascoe, Rosemarie A.; Mahtani, M. M. ; Prisco, F. ; Costa, A. ; Cognet, I. ; Hansen, T. ; Pedersen, O. ; Ellard, S. ; Tuomi, T. ; Groop, L. C. ; Froguel, P. ; Hattersley, A. T. ; Vaxillaire, M.....
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Author Affiliation, Ana.
Department of Medicine
Article Title
Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity
Medium Designator
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Connective Phrase
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Journal Title
Diabetes
Translated Title
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Reprint Status
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Date of Publication
2003
Volume ID
52
Issue ID
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Page(s)
872-881
Language
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Connective Phrase
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Location/URL
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ISSN
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Notes
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Abstract
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 ß-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. (AU)....
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