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Article

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2012

Hsu Amy P, Dowdell Kennichi C, Davis Joie, Niemela Julie E, Anderson Stacie M, Shaw Pamela A, Rao V Koneti, Puck Jennifer M

Abstract excerpt

PURPOSE: Autoimmune lymphoproliferative syndrome is a disorder of lymphocyte apoptosis. Although FAS molecules bearing mutations in the signal-transducing intracellular death domain exhibit dominant-negative interference with FAS-mediated apoptosis, mechanisms for pathology of non-death domain FAS mutations causing autoimmune lymphoproliferative syndrome are poorly defined. METHODS: RNA stability, protein...

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Identifiers

PMID: 22237435
DOI: 10.1038/gim.0b013e3182310b7d

Genes

FAS

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