maturity onset diabetes of the young type 1

An autosomal dominant endocrinopathy (OMIM:125850) of childhood to early adult onset, which is characterised by a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Molecular pathology
Caused by loss-of-function mutation in HNF4A on chromosome 20q13.12, which encodes hepatocyte nuclear factor 4, alpha, a DNA-binding protein that regulates the transcription of several liver genes (e.g., alpha 1-antitrypsin, apolipoprotein CIII, transthyretin and HNF1-alpha).

单词	maturity onset diabetes of the young type 1
释义	maturity onset diabetes of the young type 1 maturity onset diabetes of the young type 1 An autosomal dominant endocrinopathy (OMIM:125850) of childhood to early adult onset, which is characterised by a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. Molecular pathology Caused by loss-of-function mutation in HNF4A on chromosome 20q13.12, which encodes hepatocyte nuclear factor 4, alpha, a DNA-binding protein that regulates the transcription of several liver genes (e.g., alpha 1-antitrypsin, apolipoprotein CIII, transthyretin and HNF1-alpha).
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