Fabry disease : twenty novel α-galactosidase A mutations causing the classical phenotype
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概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2001-04-01
著者
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Desnick Robert
Department Of Human Genetics Mount Sinai School Of Medicine
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Ashley Grace
Department Of Human Genetics Mount Sinai School Of Medicine
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SHABBEER Junaid
Department of Human Genetics, Mount Sinai School of Medicine
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YASUDA Makiko
Department of Human Genetics, Mount Sinai School of Medicine
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ENG Christine
Department of Human Genetics, Mount Sinai School of Medicine
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Yasuda Makiko
Department Of Human Genetics Mount Sinai School Of Medicine
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Shabbeer Junaid
Department Of Human Genetics Mount Sinai School Of Medicine
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Eng Christine
Department Of Human Genetics Mount Sinai School Of Medicine
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Desnick Robert
Department Of Genetics And Genomic Sciences Mount Sinai School Of Medicine Of New York University
関連論文
- Identification and Expression of a Missense Mutation (Y446C) in the Acid Sphingomyelinase Gene from a Japanese Patient with Type A Niemann-Pick Disease
- Gene therapy for genetic diseases
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- Fabry disease : twenty novel α-galactosidase A mutations causing the classical phenotype
- LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
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