Výsledky vyhledávání - "Dl L. Kastner"

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

Autor: N. Habal, Sl L. Masters, Jg G. Ryan, Mg G. Booty, Bk K. Barham, Dl L. Kastner, Ivona Aksentijevich, Ks S. Barron, J. D. Alexander, Ef F. Remmers

Publikováno v: Annals of the rheumatic diseases. 69(7)

Objectives Familial Mediterranean fever (FMF) is caused by mutations in MEFV , which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear. Exon 3 encoding pyrin9s B-box domain is necessary for interactions with proline

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f702d1f4b91b5fe1626d83e145070d
https://pubmed.ncbi.nlm.nih.gov/19934105

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