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Journal article

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.

Abstract:

AIMS/HYPOTHESIS: Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were i...

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Publication status:
Published

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Publisher copy:
10.1007/s00125-010-1916-4

Authors


Jafar-Mohammadi, B More by this author
Groves, CJ More by this author
Gjesing, AP More by this author
Herrera, BM More by this author
Winckler, W More by this author
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Journal:
Diabetologia
Volume:
54
Issue:
1
Pages:
111-119
Publication date:
2011-01-05
DOI:
EISSN:
1432-0428
ISSN:
0012-186X
URN:
uuid:ba1986cb-0bff-4dcd-b200-c879413f98f8
Source identifiers:
83821
Local pid:
pubs:83821

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