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Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
Amaral, O; Fortuna, A M; Lacerda, L; Pinto, R; Sa Miranda, M C.
Affiliation
  • Amaral O; Unidade de Enzimologia, Instituto de Genetica Medica Jacinto de Magalhaes, Porto, Portugal.
J Med Genet ; 31(5): 401-4, 1994 May.
Article in En | MEDLINE | ID: mdl-8064820
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gaucher Disease / Mutation Limits: Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 1994 Type: Article Affiliation country: Portugal
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gaucher Disease / Mutation Limits: Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 1994 Type: Article Affiliation country: Portugal