Article
Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation.
Clinical genetics - 1 Jul 1998
Capeans C, Blanco M J, Lareu M V, Barros F, Piñeiro A, Sanchez-Salorio M, Carracedo A
Abstract excerpt
X-linked retinitis pigmentosa (XLRP) accounts for 10-25% of RP families and causes the most severe form of the disease in terms of onset and progression. Although three different loci (RP3, RP2 and RP15) have been proposed on the short arm of the X-chromosome by linkage analysis, RP3 represents the disease locus in the majority of XLRP families. The identification of female carriers of X-linked RP is important...
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