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Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation

Archive ouverte | Billuart, Pierre | CCSD

International audience. We have recently shown that mutations in oligophrenin-1 (OPHN1) are responsible for non-specific X-linked mental retardation (MRX). The structure of the gene encoding the OPHN1 protein was de...

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Archive ouverte | Billuart, Pierre | CCSD

Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which affected patients do not have any distinctive clinical or biochemical features in common apart from cognitive impairment. Although it i...

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Archive ouverte | Bienvenu, Thierry | CCSD

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