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Article

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Journal of Zhejiang University. Science. B - 1 Apr 2011

Long Yan, Gu Yang-Shun, Han Wei, Li Xiu-Yi, Yu Ping, Qi Ming

Abstract excerpt

In this paper, we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced, OMIM No. 601692) gene-linked corneal dystrophy. Altogether, five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were recruited. Peripheral venous DNA was extracted, and then amplified by polymerase chain reaction (PCR) and scanned for mutation by single-stranded...

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Share to Amino Acid Substitution
Share to Asian People
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Point Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Transforming Growth Factor beta1

Source

Open in PubMed Open full text

Identifiers

PMID: 21462384
DOI: 10.1631/jzus.B1000154
PMCID: PMC3072592

Genes

TGFBI
ACD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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