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

Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.

Scientific reports - 10 Mar 2015

Chen Xue, Liu Xiaoxing, Sheng Xunlun, Gao Xiang, Zhang Xiumei, Li Zili, Li Huiping, Liu Yani, Rong Weining, Zhao Kanxing, Zhao Chen

Abstract excerpt

EYS mutations demonstrate great genotypic and phenotypic varieties, and are one of the major causes for patients with autosomal recessive retinitis pigmentosa (ARRP). Here, we aim to determine the genetic lesions with phenotypic correlations in two Chinese families with ARRP. Medical histories and ophthalmic documentations were obtained from all participants from the two pedigrees. Targeted next-generation...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genes, Recessive

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 25753737
DOI: 10.1038/srep08927
PMCID: PMC4354143

Genes

EYS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.PMID 25753737Read ↗

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Semantic proximity Read ↗

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.Semantic proximity Read ↗

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.Semantic proximity Read ↗

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Semantic proximity Read ↗

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.Semantic proximity Read ↗

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.Semantic proximity Read ↗

Identification of Novel EYS Mutations by Targeted Sequencing Analysis.Semantic proximity Read ↗

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.Semantic proximity Read ↗

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.Semantic proximity Read ↗

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.Semantic proximity Read ↗

Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.Semantic proximity Read ↗

High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

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