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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC504967/
https://ncbi.nlm.nih.gov/pubmed/7848979
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