Article
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Prenatal diagnosis - 1 Mar 2008
Fares Fuad, Badarneh Khader, Abosaleh Mohamed, Harari-Shaham Amalia, Diukman Roni, David Miriam
Abstract excerpt
BACKGROUND: Ashkenazi Jewish (AJ) population is at increased risk for several recessive inherited diseases. Therefore, carrier testing of AJ members is important in order to identify couples at risk of having offspring with an autosomal recessive disorder. METHODS: In the present study, a database containing the results of 28 410 genotyping assays was screened. Ten thousand seventy eight nonselected healthy...
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