Title : A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.

Pub. Date : 2000 Jul

PMID : 10902757






1 Functional Relationships(s)
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1 A novel missense mutation, C30S, in the first extracellular N-terminal cysteine-rich domain (CRD1) of TNFR1 was characterized in the propositus, her affected grandfather, and her clinically unaffected father. Cysteine TNF receptor superfamily member 1A Homo sapiens