Rare shared genetic mutation for disease in Inuit discovered

19 enero 2015

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada. Their paper identifies a mutation in the gene encoding the glycogen debranching enzyme, which had previously been undetected in a decade of investigation by the same authors.
http://feeds.sciencedaily.com/~r/sciencedaily/~3/ph8M_wAwK5M/150119124757.htm

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