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Article

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

Molecular vision - 28 Nov 2009

Zhang Chunmei, Zeng Guang, Lin Hui, Li Dandan, Zhao Liming, Zhou Nan, Qi Yanhua

Abstract excerpt

PURPOSE: To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I). METHODS: Genomic DNA of three affected, four unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction (PCR) methods and direct sequencing was carried out for mutation analysis. RESULTS: A missense...

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Amino Acid Sequence
Amino Acid Substitution
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Extracellular Matrix Proteins

Transforming Growth Factor beta

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Open in PubMed Open full text

Identifiers

PMID: 19956413
PMCID: PMC2786890

Genes

TGFBI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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