Article
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.
The Journal of clinical investigation - 1 Feb 1999
Vaishnaw A K, Orlinick J R, Chu J L, Krammer P H, Chao M V, Elkon K B
Abstract excerpt
Heterozygous mutations of the receptor CD95 (Fas/Apo-1) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. From our cohort of 11 families, we studied eight patients to define the mechanisms responsible for defective CD95-mediated apoptosis. Mutations in and around the death domain of CD95 had a dominant-negative...
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