1 hasil untuk "Pascal Cathebras"

Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders

Isabelle Jéru; Serge Charmion; Emmanuelle Cochet dkk.

PLoS ONE, Vol. 8 No. 7 · 2013 · Inggris · PLOS Scopus

Objectives: TNFRSF1A is involved in an autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is…