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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno, Yasuhiro; Hamada, Keisuke; Hamanaka, Kohei; Miyoshi, Keita; Tsuchimoto, Keiji; Sunada, Satoshi; Itai, Toshiyuki; Sakamoto, Masamune; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Mizuguchi, Takeshi; Kato, Yasuhito; Saito, Kuniaki; Ogata, Kazuhiro; Matsumoto, Naomichi.
Afiliación
  • Utsuno Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Hamada K; Department of Obstetrics and Gynecology, Asahikawa Medical University, Hokkaido, Japan.
  • Hamanaka K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyoshi K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Tsuchimoto K; Department of Chromosome Science, National Institute of Genetics, Research Organization of Information and Systems (ROIS), Shizuoka, Japan.
  • Sunada S; Graduate Institute for Advanced Studies, SOKENDAI, Shizuoka, Japan.
  • Itai T; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
  • Sakamoto M; Department of Pediatrics, Kurashiki Central Hospital, Okayama, Japan.
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Koshimizu E; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mizuguchi T; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Kato Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saito K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ogata K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.
J Hum Genet ; 69(2): 69-77, 2024 Feb.
Article en En | MEDLINE | ID: mdl-38012394
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Quistes / Simportadores Límite: Child, preschool / Humans / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2024 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: Quistes / Simportadores Límite: Child, preschool / Humans / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Japón