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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Inglehearn, C F, Tarttelin, E E, Plant, C, Peacock, R E, al-Maghtheh, M, Vithana, E, Bird, A C, Bhattacharya, S S
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 1998
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051177/
https://ncbi.nlm.nih.gov/pubmed/9475085
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