Original paper
Novelde novo nonsense mutation ofMECP2 in a patient with Rett syndrome
Abstract
Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which leads to the most severely truncated MECP2 protein reported to date. Sequencing of parental DNA revealed the mutation was de novo. The patient was not...
Paper Details
Title
Novelde novo nonsense mutation ofMECP2 in a patient with Rett syndrome
Published Date
Apr 1, 2000
Journal
Volume
15
Issue
4
Pages
382 - 383
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Notes
History