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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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| Publicado no: | Biomed Res Int |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Publishing Corporation
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4322316/ https://ncbi.nlm.nih.gov/pubmed/25692141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/545243 |
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