Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

Rett syndrome is a neurodevelopmental disorder with severe mental retardation caused by mutations in the MECP2 gene. Mutations in the MECP2 gene are also associated with other genetic disorders, including X linked mental retardation in males. Missense mutations identified so far are present primaril...

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Main Authors: Kudo, S, Nomura, Y, Segawa, M, Fujita, N, Nakao, M, Schanen, C, Tamura, M
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2003
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735522/
https://ncbi.nlm.nih.gov/pubmed/12843318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.7.487
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