TY - JOUR 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 SP - 280 LP - 283 DO - 10.1136/jmg.30.4.280 VL - 30 IS - 4 AU - A J Walley AU - M L Barth AU - I Ellis AU - A H Fensom AU - A Harris Y1 - 1993/04/01 UR - http://jmg.bmj.com/content/30/4/280.abstract N2 - 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. ER -