TRAP1 chaperone protein mutations and autoinflammation

We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previou...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Life Sci Alliance
Main Authors: Standing, Ariane SI, Hong, Ying, Paisan-Ruiz, Coro, Omoyinmi, Ebun, Medlar, Alan, Stanescu, Horia, Kleta, Robert, Rowcenzio, Dorota, Hawkins, Philip, Lachmann, Helen, McDermott, Michael F, Eleftheriou, Despina, Klein, Nigel, Brogan, Paul A
פורמט: Artigo
שפה:Inglês
יצא לאור: Life Science Alliance LLC 2019
נושאים:
Research Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975284/
https://ncbi.nlm.nih.gov/pubmed/31882397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.26508/lsa.201900376
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