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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Life Sci Alliance
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Life Science Alliance LLC 2019
Θέματα:
Research Articles
Διαθέσιμο Online: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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