Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene

European Journal of Medical Genetics

Volumn 51, Issue 4, 2008, Pages 315-321

  Emre, Serap ^a   Gürakan, Figen ^b   Yüce, Aysel ^b   Rolf, Arnold ^c   Scott, Ronald ^d   Özen, Hasan ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ANKARA UNIVERSITY   (Turkey)

^c UNIVERSITY OF ROSTOCK   (Germany)

^d SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Gaucher disease (GD); Glucocerebrosidase (GBA); Mutation analysis

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; TURKEY (REPUBLIC);

ALLELES; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; POINT MUTATION; PREVALENCE; TURKEY;

EID: 47549099829     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.02.004     Document Type: Article

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