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

Novel variants associated with Stargardt disease in Chinese patients.

Gene - 5 Sept 2020

Hu Fangyuan, Gao Fengjuan, Li Jiankang, Xu Ping, Wang Dandan, Chen Fang, Zhang Shenghai, Wu Jihong

Abstract excerpt

PURPOSE: Stargardt disease (STGD) is the most frequent cause of hereditary macular dystrophy in childhood. Variants in the ABCA4, ELOVL4, PROM1, BEST1, and PRPH2 genes have been detected in patients with autosomal recessive or dominant STGD. This study was aimed at identifying the novel disease-associated variants in Chinese patients with STGD. METHODS: Ten Chinese families and two sporadic cases with STGD...

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 ATP-Binding Cassette Transporters
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Markers

Share to High-Throughput Nucleotide Sequencing

Share to Membrane Proteins

Share to Pedigree

Share to Stargardt Disease

Source

Identifiers

PMID: 32534057
DOI: 10.1016/j.gene.2020.144890

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel variants associated with Stargardt disease in Chinese patients.PMID 32534057Read ↗

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.Semantic proximity Read ↗

Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.Semantic proximity Read ↗

Novel variants of ABCA4 in Han Chinese families with Stargardt disease.Semantic proximity Read ↗

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel VariantsSemantic proximity Read ↗

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.Semantic proximity Read ↗

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.Semantic proximity Read ↗

Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease.Semantic proximity Read ↗

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.Semantic proximity Read ↗

Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.Semantic proximity Read ↗

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.Semantic proximity Read ↗

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.Semantic proximity Read ↗

Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.Semantic proximity Read ↗

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