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Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

✍ Scribed by Riera, Marina; Pomares, Esther; Permanyer, Jon; Méndez, Pilar; Castro-Navarro, Joaquín; Andrés-Gutiérrez, Ángeles; Marfany, Gemma; Gonzàlez-Duarte, Roser


Book ID
109848972
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
401 KB
Volume
18
Category
Article
ISSN
1018-4813

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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