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Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.
Yokoi, Katsuyuki; Nakajima, Yoko; Ohye, Tamae; Inagaki, Hidehito; Wada, Yoshinao; Fukuda, Tokiko; Sugie, Hideo; Yuasa, Isao; Ito, Tetsuya; Kurahashi, Hiroki.
Afiliação
  • Yokoi K; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
  • Nakajima Y; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Ohye T; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
  • Inagaki H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Wada Y; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Fukuda T; Department of Obstetric Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Sugie H; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Yuasa I; Faculty of Health and Medical Sciences, Tokoha University, Hamamatsu, Japan.
  • Ito T; Division of Legal Medicine, Tottori University Faculty of Medicine, Yonago, Japan.
  • Kurahashi H; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
JIMD Rep ; 43: 85-90, 2019.
Article em En | MEDLINE | ID: mdl-29752652

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article