Novel codon 15 RHO gene mutation associated with retinitis pigmentosa

OBJECTIVE: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa. METHODS: Case report. Retrospective data analysis. RESULTS: The mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair t...

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Detalles Bibliográficos
Autores principales: Vilela, Manuel AP, Menna Barreto, Roberta K, Menna Barreto, Pedro K, Sallum, Juliana MF, Mattevi, Vanessa S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251460/
https://www.ncbi.nlm.nih.gov/pubmed/30538586
http://dx.doi.org/10.2147/IMCRJ.S179105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251460/
https://www.ncbi.nlm.nih.gov/pubmed/30538586
http://dx.doi.org/10.2147/IMCRJ.S179105

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