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Tay-Sachs Disease

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on September 1, 2009 at 1:03:59 pm
 

 Tay-Sachs Disease

 

Tay-Sachs disease is an autosomal recessive disorder. It is a mutation in the HEXA gene on the long arm of chromosome 15. It is common in the Ashkenazi-Jewish population, approximately 1:3600 births, with a carrier frequency of 1:30 (medical genetics) and a higher incidence among a number of other population groups. 

 

The HEXA gene encodes for 

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