An update of gaucher mutations distribution in the Ashkenazi Jewish population: Prevalence and country of origin of the mutation R496H

Israel Medical Association Journal

Volumn 16, Issue 11, 2014, Pages 683-685

  Bronstein, Silvia ^a   Karpati, Mazal ^a   Peleg, Leah ^a,b  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Ashkenazi Jews; Gaucher disease; Mutation distribution; Mutations origin; R496H

Indexed keywords

GLUCOSYLCERAMIDASE;

ALLELE; ARTICLE; ASHKENAZI JEW; BIRTHPLACE; COHORT ANALYSIS; CONTROLLED STUDY; DNA EXTRACTION; ETHNICITY; FAMILY HISTORY; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GEOGRAPHIC ORIGIN; GRANDPARENT; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; POLYMERASE CHAIN REACTION; PREVALENCE; QUESTIONNAIRE; RESTRICTION MAPPING; RETROSPECTIVE STUDY; COMPARATIVE STUDY; DEMOGRAPHY; FEMALE; GENETICS; HETEROZYGOTE DETECTION; ISRAEL; JEW; MALE; MUTATION; PEDIGREE;

FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENETIC TESTING; GLUCOSYLCERAMIDASE; HETEROZYGOTE DETECTION; HUMANS; ISRAEL; JEWS; MALE; MUTATION; PEDIGREE; PREVALENCE; RESIDENCE CHARACTERISTICS; RETROSPECTIVE STUDIES;

EID: 84914665500     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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