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

Autor: ZIVIELLO, C, SIMONELLI, F, TESTA, F, ANASTASI, Mario, M, MARZOLI, SB, FALSINI, B, GHIGLIO NR, D, MACALUSO, C, MANITTO, MP, GARRE, C, CICCODICOLA, A, RINALDI, E, BANFI

Publikováno v: Journal of medical genetics
42 (2005). doi:10.1136/jmg.2005.031682
info:cnr-pdr/source/autori:Ziviello C.; Simonelli F.; Testa F.; Anastasi M.; Marzoli S.B.; Falsini B.; Ghiglione D.; Macaluso C.; Manitto M.P.; Garre C.; Ciccodicola A.; Rinaldi E.; Banfi S./titolo:Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families/doi:10.1136%2Fjmg.2005.031682/rivista:Journal of medical genetics (Print)/anno:2005/pagina_da:/pagina_a:/intervallo_pagine:/volume:42
Scopus-Elsevier

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 simultan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bafb572e2a8a75e78e657e8c736ec1
http://hdl.handle.net/11367/81288