Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frames...
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal fram...
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Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_4c1c2f0aeaed41d2bef23f9cf21ab891
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4c1c2f0aeaed41d2bef23f9cf21ab891
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-6-58
