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Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1
PURPOSE. To identify the genetic basis of a large consanguineous Spanish pedigree affected with autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia. METHODS. After a high-throughput cosegregation gene chip was used to exclude all known RP and Leber congenital am...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Association for Research in Vision and Ophthalmology, Inc.
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2868491/ https://ncbi.nlm.nih.gov/pubmed/20042663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-4857 |
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