Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

• MIZUGISHI Kiyomi

  Department of Pediatrics, Tokyo University School of Medicine

• YAMANAKA Keiko

  Department of Pediatrics, Ibaraki Handicapped Children's Hospital

• KUWAJIMA Katsuko

  Department of Pediatrics, Ibaraki Handicapped Children's Hospital

• YUASA Isao

  Department of Legal Medicine, Tottori University School of Medicine

• SHIGEMOTO Kazuhiro

  Department of Hygiene, Ehime University School of Medicine

• KONDO Ikuko

  Department of Hygiene, Ehime University School of Medicine

収録刊行物

• Brain & development

  Brain & development 21 (4), 223-228, 1999-06

キーワード

• Carbohydrate-deficient glycoprotein syndrome type I
• Isoelectric focusing study
• Chromosome 16p
• Phosphomannomutase

詳細情報

• CRID: 1571980074502591488
• NII論文ID: 10007332665
• NII書誌ID: AA00111153
• ISSN: 03877604
• Web Site: https://search.jamas.or.jp/link/ui/1999225448
• 本文言語コード: en
• データソース種別:
  • CiNii Articles