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Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
With a worldwide prevalence of 1 in 4,000, retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. More than 30 genes and loci have been implicated in nonsyndromic autosomal-recessive (ar) RP. Genome-wide homozygosity mapping was conducted in one Dutch and one Israeli f...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2869006/ https://ncbi.nlm.nih.gov/pubmed/20398884 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.03.016 |
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