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

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population.

Gene - 15 Jul 2012

Guan Tao, Liu Chibo, Ma Zhangwei, Ding Shiping

Abstract excerpt

OBJECTIVE: To understand the region point mutations and single nucleotide polymorphisms characteristic of keratoconus candidate gene in Chinese population, the TGFBI. METHODS: Polymerase chain reaction-single strand conformation polymorphism and DNA direct sequencing were performed on blood samples from 30 cases of keratoconus patients and 30 normal controls. 17 exons from the coding region of TGFBI gene were...

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
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoconus

Share to Point Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Transforming Growth Factor beta

Share to Young Adult

Source

Identifiers

PMID: 22575726
DOI: 10.1016/j.gene.2012.04.061

Genes

TGFBI
TGFB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population.PMID 22575726Read ↗

[Analyses of coding sequence point mutation and polymorphism of TGFBI gene in Chinese patients with keratoconus].Semantic proximity Read ↗

[A research on TGFBI gene mutations in Chinese families with corneal dystrophies].Semantic proximity Read ↗

[Analyses of TGFBI gene mutation spectrum in four Chinese families with corneal dystrophy].Semantic proximity Read ↗

A novel variant in TGFBI causes keratoconus in a two-generation Chinese family.Semantic proximity Read ↗

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.Semantic proximity Read ↗

[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].Semantic proximity Read ↗

[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy].Semantic proximity Read ↗

Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.Semantic proximity Read ↗

TGFBI gene mutations in a Korean population with corneal dystrophy.Semantic proximity Read ↗

Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population.Semantic proximity Read ↗

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.Semantic proximity Read ↗

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

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