Article
A family with a novel termination mutation in hepatic nuclear factor 1α in maturity-onset diabetes of the young type 3 which is unresponsive to sulphonylurea therapy.
Hormone research in paediatrics - 1 Jan 2014
Demol S, Lebenthal Y, Bar-Meisels M, Phillip M, Gat-Yablonski G, Gozlan Y
Abstract excerpt
BACKGROUND: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus. AIMS: To identify the genetic basis in a family with 3 generations of diabetes and to assess the concordance between the genotype and phenotype. METHODS: A molecular analysis was performed on genomic DNA using polymerase chain reaction, denaturing gradient gel electrophoresis, and sequencing. A mixed-meal tolerance...
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