Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

Hodanová, K; Hrebícek, M; Cervenková, M; Mrázová, L; Vepreková, L; Zemen, J

Hodanová, K; Hrebícek, M; Cervenková, M; Mrázová, L; Vepreková, L; Zemen, J.

Affiliation

Hodanová K; Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine, Ke Karlovu 2. 12000 Prague 2, Czech Republic.

Blood Cells Mol Dis ; 25(5-6): 287-98, 1999.

Article in En | MEDLINE | ID: mdl-10744424

Subject(s)

Gaucher Disease/genetics; Glucosylceramidase/genetics; Adolescent; Adult; Aged; Alleles; Blotting, Southern; Child; Child, Preschool; Czech Republic/epidemiology; DNA Mutational Analysis; Female; Gaucher Disease/epidemiology; Gaucher Disease/ethnology; Gene Frequency; Genetic Variation; Genotype; Glucosylceramidase/deficiency; Humans; Infant; Jews/genetics; Male; Middle Aged; Mutation/genetics; Phenotype; Slovakia/epidemiology; White People/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Gaucher Disease / Glucosylceramidase Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Blood Cells Mol Dis Journal subject: HEMATOLOGIA Year: 1999 Type: Article Affiliation country: Czech Republic

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