Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
about
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease.Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.High-throughput carrier screening using TaqMan allelic discrimination.CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.Gaucher disease in Syrian children: common mutations identification, and clinical futures.Mutation analysis in 46 British and Irish patients with Gaucher's disease.
P2860
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P2860
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@ast
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@en
type
label
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@ast
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@en
prefLabel
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@ast
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@en
P2093
P2860
P1476
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
@en
P2093
Abrahamov A
Horowitz M
Kolodny EH
P2860
P304
P407
P577
1993-10-01T00:00:00Z