Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev
Identification of two novel mutations and of a novel critical region in theKRIT1gene
✍ Scribed by Vito Guarnieri; Lucia A. Muscarella; Rosina Amoroso; Alessandro Quattrone; Massimo E. Abate; Michelina Coco; Domenico Catapano; Vincenzo A. D’Angelo; Leopoldo Zelante; Leonardo D’Agruma
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 369 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1364-6745
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Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
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