AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - ABSENCE OF THE RHODOPSIN PROLINE-]HISTIDINE SUBSTITUTION (CODON 23) IN PEDIGREES FROM EUROPE
- 1 December 1990
- journal article
- research article
- Vol. 47 (6) , 941-945
Abstract
In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region round the site of this mutation in the rhodopsin gene has been amplified and analyzed in affected individuals from 91 European ADRP pedigrees. The codon 23 mutation has been found to be absent in all cases, including a large Irish pedigree in which the disease gene has previously been shown to be closely linked to the rhodopsin locus. This indicates the presence of either allelic or nonallelic heterogeneity in ADRP.This publication has 21 references indexed in Scilit:
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