Article
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
Journal of medical genetics - 1 Feb 2007
Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian B A, Gak E
Abstract excerpt
BACKGROUND: Despite advances in the characterisation of mutations in the MECP2-coding region, a small proportion of classic RTT cases remain without recognisable mutations. OBJECTIVE AND METHODS: To identify previously unknown mutations, a quantitative assay was established, providing estimates of MECP2_e1 and MECP2_e2 expression levels in peripheral blood. A systematic analysis of an Israeli cohort of 82...
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