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Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome

✍ Scribed by Carol J. Saunders; Berge E. Minassian; Eva W.C. Chow; Weiwei Zhao; John B. Vincent


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
92 KB
Volume
149A
Category
Article
ISSN
1552-4825

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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 le