Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

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...

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Detalles Bibliográficos
Autores principales: Ziviello, C, Simonelli, F, Testa, F, Anastasi, M, Marzoli, S, Falsini, B, Ghiglione, D, Macaluso, C, Manitto, M, Garre, C, Ciccodicola, A, Rinaldi, E, Banfi, S
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2005
Materias:
Online Mutation Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736108/
https://ncbi.nlm.nih.gov/pubmed/15994872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031682
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