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Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

The purpose of this study was to determine whether an autosomal recessive cone dystrophy was caused by a homozygous RP1L1 mutation. A family including one subject affected with cone dystrophy and four unaffected members without evidence of consanguinity underwent detailed ophthalmic evaluations. The...

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Detalles Bibliográficos
Autores principales:	Kikuchi, Sachiko, Kameya, Shuhei, Gocho, Kiyoko, El Shamieh, Said, Akeo, Keiichiro, Sugawara, Yuko, Yamaki, Kunihiko, Zeitz, Christina, Audo, Isabelle, Takahashi, Hiroshi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322316/ https://www.ncbi.nlm.nih.gov/pubmed/25692141 http://dx.doi.org/10.1155/2015/545243

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