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
✦ LIBER ✦
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi–Goutières syndrome
✍ Scribed by Charlotte A. Haaxma; Yanick J. Crow; Maurice A.M. van Steensel; Martin M.Y. Lammens; Gillian I. Rice; Marcel M. Verbeek; Michèl A.A.P. Willemsen
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 324 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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