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Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Kosuga, Motomichi; Mashima, Ryuichi; Hirakiyama, Asami; Fuji, Naoko; Kumagai, Tadayuki; Seo, Joo-Hyun; Nikaido, Mari; Saito, Seiji; Ohno, Kazuki; Sakuraba, Hitoshi; Okuyama, Torayuki.
Afiliação
  • Kosuga M; Center for Lysosomal Storage Diseases, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan; Division of Medic
  • Mashima R; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan. Electronic address: mashima-r@ncchd.go.jp.
  • Hirakiyama A; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
  • Fuji N; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
  • Kumagai T; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
  • Seo JH; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
  • Nikaido M; Biobank, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
  • Saito S; Department of Medical Management and Informatics, Hokkaido Information University, 59-2 Nishinopporo, Ebetsu, Hokkaido 069-8585, Japan.
  • Ohno K; Catalyst Inc., 1-5-6 Kudan-minami, Chiyoda-ku, Tokyo 102-0074, Japan.
  • Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo 204-8588, Japan.
  • Okuyama T; Center for Lysosomal Storage Diseases, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
Mol Genet Metab ; 118(3): 190-197, 2016 07.
Article em En | MEDLINE | ID: mdl-27246110
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mucopolissacaridose II / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mucopolissacaridose II / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2016 Tipo de documento: Article