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Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana, Nobutaka; Hosono, Katsuhiro; Nomura, Shuhei; Arai, Shinji; Torii, Kaoruko; Kurata, Kentaro; Sato, Miho; Shimakawa, Shuichi; Azuma, Noriyuki; Ogata, Tsutomu; Wada, Yoshinao; Okamoto, Nobuhiko; Saitsu, Hirotomo; Nishina, Sachiko; Hotta, Yoshihiro.
Afiliação
  • Tachibana N; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Hosono K; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Nomura S; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Arai S; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Torii K; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Kurata K; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Sato M; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Shimakawa S; Department of Pediatrics, Osaka Medical and Pharmaceutical University Hospital, Takatsuki 569-8686, Japan.
  • Azuma N; National Center for Child Health and Development, Department of Ophthalmology and Laboratory for Visual Science, Tokyo 157-8535, Japan.
  • Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Wada Y; Hamamatsu Medical Center, Department of Pediatrics, Hamamatsu 432-8580, Japan.
  • Okamoto N; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
  • Saitsu H; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
  • Nishina S; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
  • Hotta Y; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
Genes (Basel) ; 13(2)2022 02 16.
Article em En | MEDLINE | ID: mdl-35205402
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Defeitos Congênitos da Glicosilação / Distrofias Retinianas Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Defeitos Congênitos da Glicosilação / Distrofias Retinianas Idioma: En Ano de publicação: 2022 Tipo de documento: Article