RT Journal Article
SR Electronic
T1 Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 280
OP 283
DO 10.1136/jmg.30.4.280
VO 30
IS 4
A1 A J Walley
A1 M L Barth
A1 I Ellis
A1 A H Fensom
A1 A Harris
YR 1993
UL http://jmg.bmj.com/content/30/4/280.abstract
AB 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.