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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Life Science Alliance LLC 2019
Assuntos:
Research Articles
Acesso em linha: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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