Mutation Analysis of Gaucher Disease Patients from Argentina: High Prevalence of the RecNcil Mutation

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 343-351

  Cormand, Bru ^a,d   Harboe, Theresa L ^a,e   Gort, Laura ^b   Campoy, Cristina ^c   Blanco, Mariana ^c   Chamoles, Nestor ^c   Chabâs, Arnparo ^b   Vilageliu, Lluïsa ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c Fundación para el Estudio de Las Enfermedades Neurometabó licas FESEN Laboratorio de Neuroquímica Dr N A Chamoles   (Argentina)

^d FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Argentinian patients; Gaucher disease; Glucocerebrosidase gene; Mutation screening; Recncil mutation

Indexed keywords

ALLELE; ARGENTINA; ARTICLE; GAUCHER DISEASE; GENETIC SUSCEPTIBILITY; HUMAN; JEW; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

ALLELES; ARGENTINA; DNA MUTATIONAL ANALYSIS; GAUCHER DISEASE; GENETIC HETEROGENEITY; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREVALENCE;

EID: 0031741545     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

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