Maturity onset diabetes of the young (MODY) is a genetically heterogeneous form of type 2 diabetes that is characterized by autosomal dominant inheritance, onset in early adulthood and a primary defect in insulin secretion. Mutations in at least six genes have been shown to underlie MODY, including
Identification of a gain-of-function mutation in the HNF-1β gene in a Japanese family with MODY
- Book ID
- 107656507
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 58 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0012-186X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Mutations in the transcription factor hepatocyte nuclear factor-1a (HNF-1a; gene symbol TCF1) cause maturity-onset diabetes of the young type 3 (MODY3), a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and pancreatic b-cell dysfunction. Recent genetic studies
Maturity-onset diabetes of the young is a genetically heterogenous autosomal dominant form of diabetes mellitus, characterized by an early age at onset and a primary defect in beta-cell function. Forty families with a clinical presentation suggestive of MODY were screened for the most common MODY su
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain