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A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Autosomal dominant retinitis pigmentosa (ADRP) is caused by mutations in two known genes, rhodopsin and peripherin/Rds, and seven loci identified only by linkage analysis. Rhodopsin and peripherin/Rds have been estimated to account for 20-31% and less than 5% of ADRP, respectively. No estimate of fr...

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Bibliografische gegevens
Hoofdauteurs: Inglehearn, C F, Tarttelin, E E, Plant, C, Peacock, R E, al-Maghtheh, M, Vithana, E, Bird, A C, Bhattacharya, S S
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1998
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051177/
https://ncbi.nlm.nih.gov/pubmed/9475085
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