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...

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Vydáno v:Life Sci Alliance
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Life Science Alliance LLC 2019
Témata:
Research Articles
On-line přístup: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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