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Article

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

American journal of human genetics - 1 Oct 1993

Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny E H, Brady R O, Barton N W, Abrahamov A, Zimran A

Abstract excerpt

The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the mutations were identified by using the...

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Identifiers

PMID: 8213821
PMCID: PMC1682396

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