Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23, to a 10.71 Mb interval on Xp22.31-22.13 containing 62 genes. Candidate gene screening failed to identify a causative muta...

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Detalhes bibliográficos
Main Authors: Webb, Tom R., Parfitt, David A., Gardner, Jessica C., Martinez, Ariadna, Bevilacqua, Dalila, Davidson, Alice E., Zito, Ilaria, Thiselton, Dawn L., Ressa, Jacob H.C., Apergi, Marina, Schwarz, Nele, Kanuga, Naheed, Michaelides, Michel, Cheetham, Michael E., Gorin, Michael B., Hardcastle, Alison J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3406759/
https://ncbi.nlm.nih.gov/pubmed/22619378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds194
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