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Article

Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.

Human mutation - 1 Jan 1996

DeMarchi J M, Caskey C T, Richards C S

Abstract excerpt

We describe a partially automated DNA mutation assay for detecting the most frequent mutations in the alpha-subunit of beta-hexosaminidase A, the acid beta-glucosidase and the cystic fibrosis transmembrane conductance regulator genes for the Ashkenazi Jewish population. The assay detects carriers for Tay-Sachs disease, Gaucher disease, and cystic fibrosis with sensitivities of at least 92%, 96%, and 97%,...

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Identifiers

PMID: 8844209
DOI: 10.1002/(SICI)1098-1004(1996)8:2<116::AID-HUMU3>3.0.CO;2-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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