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Volumn 49, Issue 5, 1996, Pages

SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease

Author keywords

Cardiac disease; Fabry disease; Paraffin embedded tissue; SSCP; galactosidase

Indexed keywords

ALPHA GALACTOSIDASE;

EID: 0029797516     PISSN: 13552910     EISSN: None     Source Type: Journal    
DOI: 10.1136/mp.49.5.m310     Document Type: Article
Times cited : (2)

References (12)
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    • (1995) The Metabolic and Molecular Basis of Inherited Disease. 7th Edn. , pp. 2741-2784
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  • 2
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  • 3
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    • Molecular basis of Fabry disease: Mutations and polymorphisms in the human a-galactosidase a gene
    • Eng CM, Desnick RJ. Molecular basis of Fabry disease: Mutations and polymorphisms in the human a-galactosidase A gene. Hum Mutât 1994;3:103-11.
    • (1994) Hum Mutât , vol.3 , pp. 103-111
    • Eng, C.M.1    Desnick, R.J.2
  • 5
    • 0028293314 scopus 로고
    • Detection of 8 new mutations in the cc-galactosidase a gene in Fabry disease
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    • (1994) Hum Mol Genet , vol.3 , pp. 667-669
    • Davies, J.1    Christomanou, H.2    Winchester, B.3    Malcolm, S.4
  • 6
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    • A nonsense mutation (R220X) in the oc-galactosidase a gene detected in a female carrier of Fabry disease
    • Meaney C, Blanch LC, Morris P. A nonsense mutation (R220X) in the oc-galactosidase A gene detected in a female carrier of Fabry disease. Hum Mol Genet 1994;3:1019-20.
    • (1994) Hum Mol Genet , vol.3 , pp. 1019-1020
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    • Fabry disease: Twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the oc-galactosidase a gene
    • Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the oc-galactosidase A gene. Hum Mol Genet 1994;3:1795-9.
    • (1994) Hum Mol Genet , vol.3 , pp. 1795-1799
    • Eng, C.M.1    Niehaus, D.J.2    Enriquez, A.L.3    Burgert, T.S.4    Ludman, M.D.5    Desnick, R.J.6
  • 8
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    • Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease
    • Madsen KM, Hasholt L, S0rensen SA, Fermer ML, Dahl N. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease. Hum Mutât 1995;5:277-8.
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  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.