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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...

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Source

Identifiers

PMID: 11322665
DOI: 10.1007/s100380170094

Genes

RPGR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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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A novel locus for X-linked retinitis pigmentosa.Semantic proximity Read ↗

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.Semantic proximity Read ↗

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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