Article
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Human mutation - 1 Jul 2008
Borck Guntram, Mollà-Herman Anahi, Boddaert Nathalie, Encha-Razavi Férechté, Philippe Anne, Robel Laurence, Desguerre Isabelle, Brunelle Francis, Benmerah Alexandre, Munnich Arnold, Colleaux Laurence
Abstract excerpt
Mutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with Fried syndrome. Studying four patients in two unrelated families in which AP1S2 nonsense and splice-site mutations segregated, we found that affected individuals presented, in...
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