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

Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.

Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) - 1 May 2020

Liu Fang, Wang Junwen, Xing Yiqiao, Li Tuo

Abstract excerpt

PURPOSE: To detect variants in 17 known potentially causative genes for non-syndromic myopia in 67 Tujia Chinese patients with early-onset high myopia (eo-HM). METHODS: DNA from 67 unrelated patients with early onset (<7 years old) high myopia (refraction error ≤ -6.00D or axial length > 26 mm) were subjected to whole-exome sequencing (WES). Variants in 17 candidate genes were analysed by multistep bioinformatics...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Myopia

Share to Transcription Factors

Source

Identifiers

PMID: 32215939
DOI: 10.1111/opo.12683

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

Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.PMID 32215939Read ↗

Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Semantic proximity Read ↗

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.Semantic proximity Read ↗

Mutation Screening of ARR3, CACNA1F, P4HA2, TRPM1, COL2A1, COL11A1 and PAX6 in a Chinese Cohort of 37 Patients with Early-Onset High Myopia.Semantic proximity Read ↗

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.Semantic proximity Read ↗

Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese familiesSemantic proximity Read ↗

Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.Semantic proximity Read ↗

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.Semantic proximity Read ↗

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.Semantic proximity Read ↗

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.Semantic proximity Read ↗

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.Semantic proximity Read ↗

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.Semantic proximity Read ↗

Unraveling Pathogenic Variants and the Protein Interaction Landscape in 20 Families with Early-onset high myopiaSemantic proximity Read ↗

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