Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.

doi:10.1007/s100380170094

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Article

Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.

Journal of human genetics - 1 Jan 2001

Hiraoka M, Trese M T, Shastry B S

Abstract excerpt

X-Linked retinitis pigmentosa is a most severe and heterogeneous disorder of the retina. Recently, genes (RP2 and RPGR) from two X-linked loci have been positionally cloned and mutations have been identified in many families. To further evaluate allelic and non-allelic heterogeneity and the genotype--phenotype relationships, and to determine the prevalence of mutations in the gene, we have analyzed one previously...

Topics

Alleles
Eye Proteins
Female
GTP-Binding Proteins
Genetic Linkage
Genotype
Heterozygote
Humans
Intracellular Signaling Peptides and Proteins
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microsatellite Repeats

Pedigree

Phenotype

Proteins

Retinitis Pigmentosa

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 11322665
DOI: 10.1007/s100380170094

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.PMID 11322665Read ↗

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