𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation frequencies for glycogen storag
✍ Ekstein, Josef ;Rubin, Berish Y. ;Anderson, Sylvia L. ;Weinstein, David A. ;Bach 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

## 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