Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs
✍ Scribed by I. Barragán; S. Borrego; M. M. Abd El-Aziz; M. F. El-Ashry; L. Abu-Safieh; S. S. Bhattacharya; G. Antiñolo
- Book ID
- 111111394
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 519 KB
- Volume
- 0
- Category
- Article
- ISSN
- 0003-4800
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Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In
Retinitis pigmentosa (RP), the major cause of blindness in adults, is an extremely heterogeneous monogenic disorder. More than 32 causative genes have been identified, 18 of which are involved in autosomal recessive RP (arRP); however, more than 50% of the cases remain unassigned. There are no major