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PloS one, ISSN 1932-6203, 2016, Volume 11, Issue 6, pp. e0157418 - e0157418
Purpose To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24. Methods Whole-exome... 
EXCLUSION | COLLAGEN | GENE | MULTIDISCIPLINARY SCIENCES | XVII | BEHNKE CORNEAL-DYSTROPHY | INDIVIDUAL PHENOTYPIC VARIANCES | CDB2 | PREDICTION | FAMILY | Autoantigens - metabolism | Epithelial Cells - metabolism | Alternative Splicing | Cytoskeletal Proteins - genetics | Humans | Corneal Dystrophies, Hereditary - genetics | Male | Epithelium, Corneal - pathology | Autoantigens - genetics | Case-Control Studies | Exome | Corneal Dystrophies, Hereditary - pathology | Genes, Dominant | Female | Gene Expression | Genome-Wide Association Study | Chromosomes, Human, Pair 10 - chemistry | Gene Frequency | Non-Fibrillar Collagens - genetics | Epithelial Cells - pathology | Chromosome Mapping | Corneal Dystrophies, Hereditary - diagnosis | Corneal Dystrophies, Hereditary - metabolism | Sequence Analysis, DNA | Non-Fibrillar Collagens - metabolism | Phenotype | Pedigree | Alleles | Epithelium, Corneal - metabolism | Heterozygote | Aged | Polymorphism, Single Nucleotide | Mutation | Cornea | Epithelial cells | Genes | Genomes | Gene sequencing | Proteins | Chromosome 10 | Genetics | Growth factors | Chromosomes | Deoxyribonucleic acid--DNA | Erosion | Phenotypes | Erosion mechanisms | Filtration | Splicing | Medicine | Gene frequency | Corneal dystrophy | Collagen | Dynamin | Dystrophy | Genetic testing | DNA sequencing | Index Medicus | Deoxyribonucleic acid | DNA
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FASEB journal : official publication of the Federation of American Societies for Experimental Biology, ISSN 0892-6638, 11/2017, Volume 31, Issue 11, pp. 4903 - 4916
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Biochemical and Biophysical Research Communications, ISSN 0006-291X, 08/2014, Volume 450, Issue 4, pp. 1505 - 1511
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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2015, Volume 56, Issue 13, pp. 8158 - 8165
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Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 419 - 428
Journal Article