Article
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics - 1 Aug 1998
Bienvenu T, des Portes V, Saint Martin A, McDonell N, Billuart P, Carrié A, Vinet M C, Couvert P, Toniolo D, Ropers H H, Moraine C, van Bokhoven H, Fryns J P, Kahn A, Beldjord C, Chelly J
Abstract excerpt
Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little is known about the molecular defects underlying this disorder, mainly because of the clinical and genetic heterogeneity which is evident from linkage studies. Recently, a collaborative study using the candidate gene approach demonstrated the presence of mutations...
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