Article
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.
Human molecular genetics - 1 Feb 2016
Brown Kyla, Selfridge Jim, Lagger Sabine, Connelly John, De Sousa Dina, Kerr Alastair, Webb Shaun, Guy Jacky, Merusi Cara, Koerner Martha V, Bird Adrian
Abstract excerpt
Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in...
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