Abstract | PURPOSE: METHODS: A search for a mutation in the candidate gene, kerato-epithelin, was carried out by single-strand conformation polymorphism and sequencing analyses. RESULTS: CONCLUSION: Although the possibility that the three families (two previously described Swiss families and this Canadian kindred) are related has not been excluded, it appears that the unique phenotype of lattice corneal dystrophy type 1 is caused by this particular amino acid change.
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Authors | S K Gupta, W G Hodge, K F Damji, D L Guernsey, P E Neumann |
Journal | American journal of ophthalmology
(Am J Ophthalmol)
Vol. 125
Issue 4
Pg. 547-9
(Apr 1998)
ISSN: 0002-9394 [Print] United States |
PMID | 9559741
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA Primers
- Extracellular Matrix Proteins
- Neoplasm Proteins
- Transforming Growth Factor beta
- betaIG-H3 protein
- DNA
- Arginine
- Cysteine
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Topics |
- Arginine
(genetics)
- Canada
- Chromosomes, Human, Pair 5
(genetics)
- Corneal Dystrophies, Hereditary
(genetics)
- Cysteine
(genetics)
- DNA
(analysis)
- DNA Primers
(chemistry)
- Extracellular Matrix Proteins
- Female
- Humans
- Male
- Neoplasm Proteins
(genetics)
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Transforming Growth Factor beta
(genetics)
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