[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].

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

Back to search

Article

[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Oct 2003

Yu Jie, Zou Liu-he, He Jiu-cheng, Liu Ning-pu, Zhang Wei, Lu Lan, Sun Xu-guang, Dong Dong-sheng, Wu Yu-ying, Yin Xiao-tang

Abstract excerpt

OBJECTIVE: To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene. METHODS: Genomic DNA was extracted from Chinese patients with Avellino corneal dystrophy (ACD, 10 cases), Reis-Bücklers corneal dystrophy (CDRB, 2 cases), granular corneal dystrophy (GCD, 3 cases) and 5 control subjects. The exons 4 and 12 of BIGH3 gene were amplified by PCR and the product was sequenced...

Topics

Adolescent
Adult
Corneal Dystrophies, Hereditary
Extracellular Matrix Proteins
Female
Humans
Male
Mutation
Transforming Growth Factor beta

Source

Open in PubMed

Identifiers

PMID: 14766070

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics