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MECP2 mutations in males

Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X‐linked methyl CpG‐binding protein 2 (MECP2) gene. Th...

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Hlavní autor: Villard, Laurent
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597995/
https://ncbi.nlm.nih.gov/pubmed/17351020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049452
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