Abstract | PURPOSE: METHODS: All patients and control individuals had complete ophthalmological examination by a corneal specialist to determine their affectation status. The entire transcript of the TGFBI gene was analyzed by direct sequencing from patient DNA. RESULTS: We found 8 sequence variations within the gene, none of which was protein-altering changes. These changes were also observed in control individuals, and 4 are previously known polymorphisms. CONCLUSIONS: We concluded that the TGFBI gene is not responsible for causing keratoconus in these patients.
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Authors | Nitin Udar, M Cristina Kenney, Meenal Chalukya, Tara Anderson, Liezel Morales, Donald Brown, Anthony Nesburn, Kent Small |
Journal | Cornea
(Cornea)
Vol. 23
Issue 1
Pg. 13-7
(Jan 2004)
ISSN: 0277-3740 [Print] United States |
PMID | 14701952
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Extracellular Matrix Proteins
- Transforming Growth Factor beta
- betaIG-H3 protein
- DNA
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Topics |
- Amino Acid Substitution
- Case-Control Studies
- Cohort Studies
- DNA
(genetics)
- Exons
(genetics)
- Extracellular Matrix Proteins
(genetics)
- Humans
- Introns
(genetics)
- Keratoconus
(genetics)
- Mutation
- Polymorphism, Genetic
- Transforming Growth Factor beta
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