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
β¦ LIBER β¦
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome
β Scribed by Bruno Drera; Andrea Guala; Nicoletta Zoppi; Rita Gardella; Piergiorgio Franceschini; Sergio Barlati; Marina Colombi
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 139 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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