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- Title
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.
- Authors
Ellard, Sian; Bulman, Michael P.; Frayling, Timothy M.; Allen, Lisa I.S.; Dronsfield, Mark J.; Tack, Cees J.; Hattersley, Andrew T.; Ellard, S; Bulman, M P; Frayling, T M; Allen, L I; Dronsfield, M J; Tack, C J; Hattersley, A T
- Abstract
Investigates the occurrence of allelic drop-out in exon 2 of the hepatocyte nuclear factor (HNF)-1alpha gene in three families with maturity-onset diabetes of the young (MODY). Identification of variety of HNF-1alpha mutations in MODY families; Reason for failure to detect mutation in exon 2.
- Subjects
TYPE 2 diabetes; FAMILIAL diseases; HUMAN genetic variation; AGE factors in disease; ALLELES; COMPARATIVE studies; DIABETES; DOCUMENTATION; GENES; RESEARCH methodology; MEDICAL cooperation; GENETIC mutation; NUCLEOTIDES; PROTEINS; RESEARCH; TRANSCRIPTION factors; DNA-binding proteins; EVALUATION research; NUCLEAR proteins
- Publication
Diabetes, 1999, Vol 48, Issue 4, p921
- ISSN
0012-1797
- Publication type
journal article
- DOI
10.2337/diabetes.48.4.921