Types I and III Gaucher disease in Poland: Incidence of the most common mutations and phenotypic manifestations

European Journal of Human Genetics

Volumn 4, Issue 6, 1996, Pages 334-337

  Tylki Szymańska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Gaucher disease; Genotype phenotype; Mutation analysis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MALE; PHENOTYPE; POLAND; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030453383     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472228     Document Type: Article

References (5)

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2. NIH Technology Assessment Panel on Gaucher disease: Gaucher Disease. JAMA 1996;275:548-553.
3. Horowitz M, Zimran A: Mutations causing Gaucher disease. Hum Mut 1994;3:1-11.
4. Beutler E, Gelbart T: Gaucher disease mutations in non-Jewish patients. Br J Haematol 1993;85:401-405.
5. Walley A, Barth ML, Ellis I, Fensom A, Harris A: Gaucher's disease in the United Kingdom: Screening non-Jewish patients for the two common mutations. J Med Genet 1993;30:280-283.