Spectrum of GBA mutations in patients with gaucher disease from Slovakia: Identification of five novel mutations

Israel Medical Association Journal

Volumn 17, Issue 3, 2015, Pages 166-170

  Mattošová, Slavomíra ^a,c   Chandoga, J ^a   Hlavatá, Anna ^b   Šaligová, Jana ^d   Maceková, Danka ^a  

^a UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^b Children Hospital   (Slovakia)

^c University in Bratislava   (Slovakia)

^d NONE   (Slovakia)

Author keywords

Gaucher disease; GBA gene; Glucocerebrosidase; Mutation analysis; Novel mutations

Indexed keywords

ALLELE; ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GAUCHER DISEASE; GENE; GENE ACTIVITY; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE; GLUCOCEREBROSIDASE GENE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; GENETIC ASSOCIATION; GENETICS; MUTATION; SLOVAKIA;

GLUCOSYLCERAMIDASE;

FEMALE; GAUCHER DISEASE; GENETIC ASSOCIATION STUDIES; GLUCOSYLCERAMIDASE; HUMANS; MALE; MUTATION; SLOVAKIA;

EID: 84925354709     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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