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A novel de novo CFTR mutation in a Polish CF patient

✍ Scribed by A.K. Norek; M. Stremska; A. Sobczynska-Tomaszewska; M. Milewski; H. Dmenska; D. Sands; M. Jurek; K. Czerska; K. Wertheim-Tysarowska; J. Bal


Book ID
118642451
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
47 KB
Volume
9
Category
Article
ISSN
1569-1993

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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