GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Research Abstract Details 

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GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Abstract Text:

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 mutations in GCK (encoding glucokinase, also called MODY2) and mutations in HNF1A (encoding hepatocyte nuclear factor-1alpha, also called MODY3). We sequenced genomic DNA from probands of seven Canadian MODY families. In four probands, we detected four novel GCK mutations, namely IVS2-7G>A, G72R, T206R and S263P. In three other probands, we detected three HNF1A mutations, of which two were novel, namely 1051delCA and Q250X, and one had been previously reported, namely R131Q. The novel mutations expand the spectrum of MODY mutations. In addition, knowledge of the specific defect can be used to pre-symptomatically identify family members at risk for developing MODY.

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Publishing Authors By Initials

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

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GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human mutation

VOLUME: 20

Page Numbers: 478-9

Journal Abbreviation: Hum. Mutat.

ISSN: 1098-1004

DAY: 14

MONTH: Dec

YEAR: 2002

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Information

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LANGUAGE: eng

NlmUniqueID: 9215429

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Information

Substance Name: Glucokinase

Registry Number: EC 2.7.1.2

Grant and Affiliation Information for GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

AFFILIATION: Robarts Research Institute, London, Ontario, Canada.

Country: United States

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MEDLINETA: Hum Mutat

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ACCESSION NUMBER: 142410

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