Your browser doesn't support javascript.
loading
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.
Li, Mingfeng; Lay, Kenneth; Zimmer, Andreas; Technau-Hafsi, Kristin; Wong, Jasmine; Reimer-Taschenbrecker, Antonia; Rohr, Jan; Abdalla, Ebtesam; Fischer, Judith; Reversade, Bruno; Has, Cristina.
Affiliation
  • Li M; Department of Dermatology.
  • Lay K; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Zimmer A; Institute of Human Genetics.
  • Technau-Hafsi K; Department of Dermatology.
  • Wong J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Reimer-Taschenbrecker A; Department of Dermatology.
  • Rohr J; Department of Paediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Fischer J; Institute of Human Genetics.
  • Reversade B; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Has C; Department of Dermatology.
Br J Dermatol ; 188(2): 259-267, 2023 02 10.
Article in En | MEDLINE | ID: mdl-36763876
Subject(s)
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Apoptosis Regulatory Proteins / Inflammasomes Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans Language: En Year: 2023 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Apoptosis Regulatory Proteins / Inflammasomes Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans Language: En Year: 2023 Type: Article