## Communicared by Edward R. B. McCabe Fanconi anemia (FA) is an autosomal recessive disease for which at least four complementation groups exist. Recently the gene that corrects the defect in Fanconi anemia complementation group C cells (FACC) has been cloned. We have previously identified a comm
β¦ LIBER β¦
Carrier frequency of two BBS2 mutations in the Ashkenazi population
β Scribed by Fedick, A.; Jalas, C.; Abeliovich, D.; Krakinovsky, Y.; Ekstein, J.; Ekstein, A.; Treff, N.R.
- Book ID
- 124164042
- Publisher
- John Wiley and Sons
- Year
- 2013
- Tongue
- English
- Weight
- 736 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0009-9163
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## Abstract Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme Dβglucoseβ6βphosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry