Your browser doesn't support javascript.
loading
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis, Denisa; Lin, Liangguang L; Wang, Huilun H; Li, Zexin Jason; Kusikova, Katarina; Ciznar, Peter; Wolf, Hermann M; Leiss-Piller, Alexander; Wang, Zhihong; Wei, Xiaoqiong; Weis, Serge; Skalicka, Katarina; Hrckova, Gabriela; Danisovic, Lubos; Soltysova, Andrea; Yang, Tingxuan T; Feichtinger, René Günther; Mayr, Johannes A; Qi, Ling.
Affiliation
  • Weis D; Department of Medical Genetics, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.
  • Lin LL; Department of Pediatrics, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia.
  • Wang HH; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Li ZJ; Department of Molecular & Integrative Physiology and.
  • Kusikova K; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Ciznar P; Department of Molecular & Integrative Physiology and.
  • Wolf HM; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Leiss-Piller A; Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Wang Z; Department of Pediatric Neurology, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia.
  • Wei X; Department of Pediatrics, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia.
  • Weis S; Immunology Outpatient Clinic, Vienna, Austria.
  • Skalicka K; Sigmund Freud Private University-Medical School, Vienna, Austria.
  • Hrckova G; Immunology Outpatient Clinic, Vienna, Austria.
  • Danisovic L; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Soltysova A; Department of Molecular & Integrative Physiology and.
  • Yang TT; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Feichtinger RG; Department of Molecular & Integrative Physiology and.
  • Mayr JA; Division of Neuropathology, Neuromed Campus, Department of Pathology and Molecular Pathology, Kepler University Hospital, Johannes Kepler University, Linz, Austria.
  • Qi L; Department of Pediatrics, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia.
J Clin Invest ; 134(2)2024 Jan 16.
Article in En | MEDLINE | ID: mdl-37943617
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Proteins / Agammaglobulinemia Limits: Animals / Humans Language: En Year: 2024 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Proteins / Agammaglobulinemia Limits: Animals / Humans Language: En Year: 2024 Type: Article