A nonsense mutation in two German patients with fucosidosis
β Scribed by Hee-Chan Seo; Peter H. Heidemann; Erwin Lutz; John S. O'Brien
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 180 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
We report on the spectrum and frequency of mutations in the phenylalanine hydroxylase (PAH) gene in 226 German families with PAH deficiency, most of them from Southern Germany. A total of 88 mutations were identified in 428 out of 438 mutant PAH alleles including one novel stop mutation L293X (c.878