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Article

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1991

Beutler E, Gelbart T, Kuhl W, Sorge J, West C

Abstract excerpt

Gaucher disease is an autosomal recessive glycolipid storage disease characterized by a deficiency of glucocerebrosidase. The disease is most common in persons of Ashkenazi Jewish ancestry and the most common mutation, accounting for about 75% of the mutant alleles in this population, is known to be an A----G substitution at cDNA nucleotide (nt) 1226. Screening for this disease has not been possible because...

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Identifiers

PMID: 1961718
DOI: 10.1073/pnas.88.23.10544
PMCID: PMC52965

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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.PMID 1961718Read ↗

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