Novel missense mutation (M72V) of α-galactosidase gene and its expression product in an atypical fabry hemizygote
Toshika Okumiya
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
School of Allied Health Sciences, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorOsamu Kawamura
Department of Internal Medicine, Self Defense Force Central Hospital, Tokyo, Japan
Search for more papers by this authorKohji Itoh
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Search for more papers by this authorRyoichi Kase
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Search for more papers by this authorSachiko Kamei
School of Allied Health Sciences, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Hitoshi Sakuraba M.D.
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Department of Clinical Generics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113, JapanSearch for more papers by this authorToshika Okumiya
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
School of Allied Health Sciences, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorOsamu Kawamura
Department of Internal Medicine, Self Defense Force Central Hospital, Tokyo, Japan
Search for more papers by this authorKohji Itoh
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Search for more papers by this authorRyoichi Kase
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Search for more papers by this authorSachiko Kamei
School of Allied Health Sciences, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Hitoshi Sakuraba M.D.
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Department of Clinical Generics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113, JapanSearch for more papers by this author
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