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Article

Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.

American journal of medical genetics. Part A - 1 Nov 2007

Jin Zi-Bing, Gu Feng, Matsuda Hirokazu, Yukawa Nobuhiro, Ma Xu, Nao-i Nobuhisa

Abstract excerpt

The g.ORF15 + 652-653delAG mutation in the RPGR gene is the most frequent mutation in X-linked retinitis pigmentosa (XLRP). The objective of this study was to investigate the possibility of mosaicism in an XLRP family. Eight subjects in the RP family were recruited. Blood samples were collected for DNA extraction. Haplotype analysis and mutational screening on the RPGR gene were performed. Additionally, samples...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Diseases, X-Linked

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Source

Identifiers

PMID: 17935240
DOI: 10.1002/ajmg.a.31984

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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