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Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.

Proc. Natl. Acad. Sci. U.S.A. 2009 Aug 25;106(34):14460-5.
PubMed Citation Journal Link

Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined by an autosomal pattern of inheritance and a young age at onset, often before age 25. MODY is genetically heterog...y attenuated by the Ala71Thr mutation. These findings point to BLK as a previously unrecognized modulator of beta-cell function, the deficit of which may lead to the development of diabetes.

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