Glycogen Storage Disease Type IIIa: Shared Genetic Mutation For Disease In Inuit

Sunday, January 25, 2015 - 17:10 in Biology & Nature

A team of researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal). The paper identifies a mutation in the gene encoding the glycogen debranching enzyme (AGL), which had previously been undetected in a decade of investigation by the same authors. read more

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