Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2007

Zhang Xiao-hui, Dong Bing, Yan Wei-yu, Shan Ming-hua, Li Yang

Abstract excerpt

OBJECTIVE: To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP). METHODS: Genetic linkage analysis was performed on the known genetic loci for adRP with a panel of polymorphic markers, and then all exons including exon-intron boundary, 5oUTR and 3oUTR of the candidate gene were sequenced directly. RESULTS: Two-point LOD scores were negative with all...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Markers

Share to Haplotypes

Share to Introns

Share to Mutation

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 18067080

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa].PMID 18067080Read ↗

Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.Semantic proximity Read ↗

[Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].Semantic proximity Read ↗

[Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa].Semantic proximity Read ↗

Identification and Characterization of a Novel Mutation in the Carbonic Anhydrase IV Gene that Causes Retinitis PigmentosaSemantic proximity Read ↗

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.Semantic proximity Read ↗

[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].Semantic proximity Read ↗

[A Chinese family with autosomal dominant retinitis pigmentosa and a pro347Leu rhodopsin gene mutation].Semantic proximity Read ↗

[Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients].Semantic proximity Read ↗

Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family.Semantic proximity Read ↗

[Preliminary mapping of an autosomal dominant retinitis pigmentosa gene by linkage analysis].Semantic proximity Read ↗

[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].Semantic proximity Read ↗

[Gene mapping in a Chinese family with autosomal dominant centralpuiverulent cataract].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.