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SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 1 - 15
Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal... 
MUTANTS | DOMAIN | PROTEIN | INDIAN FAMILIES | MULTIDISCIPLINARY SCIENCES | SEQUENCE | COL8A2 | TRANSPORT FUNCTION | SPECTRUM | MISSENSE MUTATIONS | PREDICTION | Cornea | Immunoglobulins | Translation initiation | Methionine | Antibodies | Reverse transcription | Homology | Cell surface | Endothelium | Polymerase chain reaction | Corneal dystrophy | Dystrophy | Bioinformatics
Journal Article
Journal Article
Journal Article
IN VIVO, ISSN 0258-851X, 05/2019, Volume 33, Issue 3, pp. 963 - 971
Background/Aim: Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal endothelium. The... 
MEDICINE, RESEARCH & EXPERIMENTAL | COLLAGEN | PENETRATING KERATOPLASTY | polymorphism | Fuchs' endothelial corneal dystrophy | MODEL | LOCUS | TRENDS | MISSENSE MUTATIONS | UNFOLDED PROTEIN RESPONSE | DISEASE | COL8A2 | TCF4 | INHERITANCE | ASSOCIATION
Journal Article
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2001, Volume 10, Issue 21, pp. 2415 - 2423
Journal Article
Journal Article
Journal Article
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 01/2006, Volume 47, Issue 1, pp. 140 - 145
PURPOSE. To identify the gene locus underlying the inheritance of late-onset Fuchs corneal dystrophy (FCD) in a large white kindred. METHODS. Genotypes of... 
COL8A2 | OPHTHALMOLOGY | COLLAGEN | INHERITANCE | ENDOTHELIAL DYSTROPHY | MUTATION | Chromosomes, Human, Pair 13 - genetics | Fuchs' Endothelial Dystrophy - genetics | Humans | Middle Aged | Exons - genetics | Genotype | Male | Chromosome Mapping | Lod Score | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Aged | Mutation | Child | Genetic Linkage | Index Medicus
Journal Article