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Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptomet...

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Podrobná bibliografie
Vydáno v:Br J Ophthalmol
Hlavní autoři: Kim, R Y, Fitzke, F W, Moore, A T, Jay, M, Inglehearn, C, Arden, G B, Bhattacharya, S S, Bird, A C
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC505013/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7880785/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/bjo.79.1.23
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