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Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
Marek-Yagel, Dina; Stenke, Emily; Pode-Shakked, Ben; Dunne, Cara; Crushell, Ellen; Bryce-Smith, Anthea; McDermott, Michael; O'Sullivan, Maureen J; Veber, Alvit; Krishnamurthy, Mansa; Wells, James M; Anikster, Yair; Bourke, Billy.
Afiliación
  • Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.
  • Stenke E; Clalit Research Institute, Ramat Gan, Israel.
  • Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Dunne C; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland.
  • Crushell E; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.
  • Bryce-Smith A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • McDermott M; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • O'Sullivan MJ; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland.
  • Veber A; Department of Gastroenterology, St James' Hospital, Dublin, Ireland.
  • Krishnamurthy M; National Centre for Inherited Metabolic Disorders, Children's Health Ireland-Temple Street, Dublin, Ireland.
  • Wells JM; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland.
  • Anikster Y; Department of Histopathology, Children's Health Ireland-Crumlin, Dublin, Ireland.
  • Bourke B; Department of Histopathology, Children's Health Ireland-Crumlin, Dublin, Ireland.
Hum Genet ; 142(5): 691-696, 2023 May.
Article en En | MEDLINE | ID: mdl-36076104
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Gastrinas / Codón sin Sentido Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Israel
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Gastrinas / Codón sin Sentido Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Israel