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

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Human genetics - 1 Oct 2014

Xu Yan, Guan Liping, Shen Tao, Zhang Jianguo, Xiao Xueshan, Jiang Hui, Li Shiqiang, Yang Jianhua, Jia Xiaoyun, Yin Ye, Guo Xiangming, Wang Jun, Zhang Qingjiong

Abstract excerpt

Retinitis pigmentosa (RP) is the most common and highly heterogeneous form of hereditary retinal degeneration. This study was to identify mutations in the 60 genes that were known to be associated with RP in 157 unrelated Chinese families with RP. Genomic DNA from probands was initially analyzed by whole exome sequencing. Sanger sequencing was used to confirm potential candidate variants affecting the encoded...

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 Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Young Adult

Source

Identifiers

PMID: 24938718
DOI: 10.1007/s00439-014-1460-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.PMID 24938718Read ↗

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Semantic proximity Read ↗

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.Semantic proximity Read ↗

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.Semantic proximity Read ↗

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients.Semantic proximity Read ↗

Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.Semantic proximity Read ↗

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.Semantic proximity Read ↗

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

Genes and mutations causing retinitis pigmentosa.Semantic proximity Read ↗

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