Your browser doesn't support javascript.
loading
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi, Nanako; Kishita, Yoshihito; Nakama, Mina; Sasai, Hideo; Terazawa, Atsushi; Kobayashi, Emiko; Fushimi, Takuya; Sugiyama, Yohei; Ichimoto, Keiko; Nitta, Kazuhiro R; Yatsuka, Yukiko; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi.
Afiliación
  • Omichi N; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
  • Kishita Y; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
  • Nakama M; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Sasai H; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
  • Terazawa A; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
  • Kobayashi E; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Fushimi T; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
  • Sugiyama Y; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Ichimoto K; Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.
  • Nitta KR; Department of Pediatric Cardiology, Gifu Prefectural General Medical Center, Gifu, Japan.
  • Yatsuka Y; Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan.
  • Ohtake A; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Okazaki Y; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
J Hum Genet ; 68(9): 649-652, 2023 Sep.
Article en En | MEDLINE | ID: mdl-37246162
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pirofosfatasas / Familia Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pirofosfatasas / Familia Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón