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Whole-exome-sequencing-based discovery of human FADD deficiency
- Source :
- American Journal of Human Genetics. Dec 10, 2010, Vol. 87 Issue 6, p873, 9 p.
- Publication Year :
- 2010
-
Abstract
- A combination of genome-wide linkage and whole-exome sequencing was used to identify a homozygous missense mutation in FADD, encoding the Fas-associated death domain protein (FADD) which cause dominantly inherited autoimmune lymphoproliferative syndrome (ALPS) in the patients. The results provide insight into the key role of FADD in Fas-dependent and Fas-independent signaling pathways in humans and genetic basis of the complex clinical disorder and some of the key mechanisms underlying its pathogenesis.
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 87
- Issue :
- 6
- Database :
- Gale General OneFile
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.247599531