Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.

Affected members of a family with autosomal dominant retinitis pigmentosa were found to have a 3 base pair deletion at codon 118 or 119 of the retinal degeneration slow gene. This mutation causes the loss of a highly conserved cysteine residue in the predicted third transmembrane domain of peripheri...

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Detalles Bibliográficos

Publicado en:	Br J Ophthalmol
Autores principales:	Wroblewski, J J, Wells, J A, Eckstein, A, Fitzke, F W, Jubb, C, Keen, T J, Inglehearn, C F, Bhattacharya, S S, Arden, G B, Jay, M R
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMJ Publishing Group 1994
Materias:	Research Article
Acceso en línea:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC504967/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7848979/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/bjo.78.11.831
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