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3 results on '"Britland, Alison"'

2. Whole-exome-sequencing-based discovery of human FADD deficiency

Author

Bolze, Alexandre, Byun, Minji, McDonald, David, Morgan, Neil V., Abhyankar, Avinash, Premkumar, Lakshmannane, Puel, Anne, Bacon, Chris M., Rieux-Laucat, Frederic, Ki Pang, Britland, Alison, Abel, Laurent, Cant, Andrew, Maher, Eamonn R., Riedl, Stefan J., Hambleton, Sophie, and Casanova, Jean-Laurent

Subjects
Gene mutations -- Analysis, Autoimmune diseases -- Genetic aspects, Autoimmune diseases -- Research, Biological sciences
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.

Published
2010

3. A novel 506kb deletion causing εγδβ thalassemia

Author

Rooks, Helen, primary, Clark, Barnaby, additional, Best, Steve, additional, Rushton, Peter, additional, Oakley, Matthew, additional, Thein, Onn Shaun, additional, Cuthbert, Ann C., additional, Britland, Alison, additional, Ruf, Afruj, additional, and Thein, Swee Lay, additional

Published
2012
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