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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975284/
https://www.ncbi.nlm.nih.gov/pubmed/31882397
http://dx.doi.org/10.26508/lsa.201900376

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975284/
https://www.ncbi.nlm.nih.gov/pubmed/31882397
http://dx.doi.org/10.26508/lsa.201900376

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