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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Archive ouverte | Zemni, Ramzi | CCSD

International audience

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation

Archive ouverte | Gomot, Marie | CCSD

Non-syndromic X-linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations asc...

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...

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