Identification of Cryptic Novel &#945;-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.

Higuchi, Takashi; Kobayashi, Masahisa; Ogata, Jin; Kaneshiro, Eiko; Shimada, Yohta; Kobayashi, Hiroshi; Eto, Yoshikatsu; Maeda, Shiro; Ohtake, Akira; Ida, Hiroyuki; Ohashi, Toya

Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.

Higuchi, Takashi; Kobayashi, Masahisa; Ogata, Jin; Kaneshiro, Eiko; Shimada, Yohta; Kobayashi, Hiroshi; Eto, Yoshikatsu; Maeda, Shiro; Ohtake, Akira; Ida, Hiroyuki; Ohashi, Toya.

Afiliação

Higuchi T; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan. tahiguchi@jikei.ac.jp.
Kobayashi M; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Ogata J; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Kaneshiro E; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Shimada Y; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
Kobayashi H; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
Eto Y; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Maeda S; Front-Line Clinic Center, Kanagawa, Japan.
Ohtake A; Department of Advanced Genomic and Laboratory Medicine, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
Ida H; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
Ohashi T; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.

JIMD Rep ; 30: 63-72, 2016.

Article em En | MEDLINE | ID: mdl-27255140

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2016 Tipo de documento: Article

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