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Volumn 99, Issue 2, 1998, Pages 80-82

Six new Gaucher disease mutations

Author keywords

Glucocerebrosidase

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL ARTICLE; FEMALE; GAUCHER DISEASE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031908468     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000040815     Document Type: Article
Times cited : (19)

References (7)
  • 1
    • 0026591232 scopus 로고
    • Gaucher disease: New molecular approaches to diagnosis and treatment
    • Beutler E: Gaucher disease: New molecular approaches to diagnosis and treatment. Science 1992;256:794-799.
    • (1992) Science , vol.256 , pp. 794-799
    • Beutler, E.1
  • 2
    • 0027427341 scopus 로고
    • Gaucher disease mutations in non-Jewish patients
    • Beutler E, Gelbart T: Gaucher disease mutations in non-Jewish patients. Br J Haematol 1993;85:401-405.
    • (1993) Br J Haematol , vol.85 , pp. 401-405
    • Beutler, E.1    Gelbart, T.2
  • 3
    • 0029848854 scopus 로고    scopus 로고
    • Mutation update: Glucocerebrosidase (Gaucher disease)
    • Beutler E, Gelbart T: Mutation update: Glucocerebrosidase (Gaucher disease). Hum Mutat 1996;8:207-213.
    • (1996) Hum Mutat , vol.8 , pp. 207-213
    • Beutler, E.1    Gelbart, T.2
  • 4
    • 0030858505 scopus 로고    scopus 로고
    • Hematologically important mutations: Gaucher disease
    • Beutler E, Gelbart T: Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 1997;23:2-7.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 2-7
    • Beutler, E.1    Gelbart, T.2
  • 7
    • 0025101234 scopus 로고
    • A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis and diagnosis of this disorder
    • Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E: A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis and diagnosis of this disorder. J Clin Invest 1990;85:219-222.
    • (1990) J Clin Invest , vol.85 , pp. 219-222
    • Zimran, A.1    Sorge, J.2    Gross, E.3    Kubitz, M.4    West, C.5    Beutler, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.