A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. [electronic resource]
Producer: 20080424Description: 371-7 p. digitalISSN:- 0003-9950
- Adult
- Aged
- Amyloid -- metabolism
- Amyloidosis -- diagnosis
- Corneal Dystrophies, Hereditary -- diagnosis
- Corneal Stroma -- metabolism
- DNA Mutational Analysis
- Exons
- Extracellular Matrix Proteins -- genetics
- Female
- Gene Amplification
- Genetic Variation
- Humans
- Male
- Middle Aged
- Mutation, Missense
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Transforming Growth Factor beta -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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