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Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Woutsas, Stavroula; Aytekin, Caner; Salzer, Elisabeth; Conde, Cecilia Domínguez; Apaydin, Sema; Pichler, Herbert; Memaran-Dadgar, Nima; Hosnut, Ferda Ozbay; Förster-Waldl, Elisabeth; Matthes, Susanne; Huber, Wolf-Dietrich; Lion, Thomas; Holter, Wolfgang; Bilic, Ivan; Boztug, Kaan.
Afiliación
  • Woutsas S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Aytekin C; Department of Pediatric Immunology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
  • Salzer E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Conde CD; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Apaydin S; Department of Pathology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
  • Pichler H; Department of Paediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
  • Memaran-Dadgar N; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Hosnut FO; Department of Pediatric Gastroenterology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
  • Förster-Waldl E; Division of Molecular Microbiology, Children's Cancer Research Institute, Vienna, Austria.
  • Matthes S; Department of Pediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
  • Huber WD; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Lion T; Division of Molecular Microbiology, Children's Cancer Research Institute, Vienna, Austria.
  • Holter W; Department of Pediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
  • Bilic I; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Boztug K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Blood ; 125(10): 1674-6, 2015 Mar 05.
Article en En | MEDLINE | ID: mdl-25745186
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas / Inmunodeficiencia Combinada Grave / Mutación Missense / Intestinos Tipo de estudio: Etiology_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Blood Año: 2015 Tipo del documento: Article País de afiliación: Austria
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas / Inmunodeficiencia Combinada Grave / Mutación Missense / Intestinos Tipo de estudio: Etiology_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Blood Año: 2015 Tipo del documento: Article País de afiliación: Austria