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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Hlavní autoři: Permanyer, Jon, Navarro, Rafael, Friedman, James, Pomares, Esther, Castro-Navarro, Joaquín, Marfany, Gemma, Swaroop, Anand, Gonzàlez-Duarte, Roser
Médium: Artigo
Jazyk:Inglês
Vydáno: Association for Research in Vision and Ophthalmology, Inc. 2010
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On-line přístup: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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