Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24. [electronic resource]
Producer: 20170713Description: e0157418 p. digitalISSN:- 1932-6203
- Aged
- Alleles
- Alternative Splicing
- Autoantigens -- genetics
- Case-Control Studies
- Chromosome Mapping
- Chromosomes, Human, Pair 10 -- chemistry
- Corneal Dystrophies, Hereditary -- diagnosis
- Cytoskeletal Proteins -- genetics
- Epithelial Cells -- metabolism
- Epithelium, Corneal -- metabolism
- Exome
- Female
- Gene Expression
- Gene Frequency
- Genes, Dominant
- Genome-Wide Association Study
- Heterozygote
- Humans
- Male
- Mutation
- Non-Fibrillar Collagens -- genetics
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
- Collagen Type XVII
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Publication Type: Journal Article
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