Published in TB and Outbreaks Week, February 27th, 1995
Gaucher's disease, the most prevalent sphingolipid storage disorder in the Jewish Ashkenazi community, is inherited as an autosomal recessive. To date, more than 40 mutations have been described, all of which result in deficient production of the enzyme glucocerebrosidase.
The mutation 1226 is considered the common Jewish mutation, accounting for 77 percent of the mutated alleles in the Jewish Ashkenazi population.
"The estimated carrier frequency is 7...
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