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. 1993 Apr;30(4):280–283. doi: 10.1136/jmg.30.4.280

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

A J Walley 1, M L Barth 1, I Ellis 1, A H Fensom 1, A Harris 1
PMCID: PMC1016332  PMID: 8487270

Abstract

Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84G, and 1066 + 1G-->A, respectively. The results showed that out of 54 alleles screened, 26% were N370S, 35% were L444P, and the remaining 39% were rare or undefined. The results also showed a clear correlation between the presence of at least one N370S allele and mild disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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