Ontology highlight
ABSTRACT:
SUBMITTER: Ziviello C
PROVIDER: S-EPMC1736108 | biostudies-literature | 2005 Jul
REPOSITORIES: biostudies-literature
Ziviello C C Simonelli F F Testa F F Anastasi M M Marzoli S B SB Falsini B B Falsini B B Ghiglione D D Macaluso C C Manitto M P MP Garrè C C Ciccodicola A A Rinaldi E E Banfi S S
Journal of medical genetics 20050701 7
Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms (ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were ide ...[more]