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Implications for health and disease in the genetic signature of the Ashkenazi Jewish population

✍ Scribed by Saurav Guha; Jeffrey A Rosenfeld; Anil K Malhotra; Annette T Lee; Peter K Gregersen; John M Kane; Itsik Pe’er; Ariel Darvasi; Todd Lencz

Book ID: 118727782
Publisher: BioMed Central
Year: 2012
Tongue: English
Weight: 888 KB
Volume: 13
Category: Article
ISSN: 1465-6906
DOI: 10.1186/gb-2012-13-1-r2

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## Abstract Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme D‐glucose‐6‐phosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry