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

A. J. Walley*, M. L. Barth, I. Ellis, A. H. Fensom, A. Harris

*Corresponding author for this work

Research output: Contribution to journalArticle

23 Scopus citations

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 + IG → 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.

Original languageEnglish (US)
Pages (from-to)280-283
Number of pages4
JournalJournal of medical genetics
Volume30
Issue number4
DOIs
StatePublished - 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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