A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions

Ophthalmology

Volumn 123, Issue 4, 2016, Pages 709-722

  Oliver, Verity F ^a   Van Bysterveldt, Katherine A ^a   Cadzow, Murray ^b   Steger, Bernhard ^c   Romano, Vito ^c   Markie, David ^b   Hewitt, Alex W ^d,e   MacKey, David A ^d,e   Willoughby, Colin E ^c,f   Sherwin, Trevor ^a   Crosier, Philip S ^g   McGhee, Charles N ^a,h   Vincent, Andrea L ^a,h  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^d UNIVERSITY OF TASMANIA   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f UNIVERSITY OF LIVERPOOL   (United Kingdom)

^g THE UNIVERSITY OF AUCKLAND   (New Zealand)

^h GREEN LANE HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 17 ALPHA 1; DNAJC9 PROTEIN; MORPHOLINO OLIGONUCLEOTIDE; PROTEIN; UNCLASSIFIED DRUG; AUTOANTIGEN; COLLAGEN TYPE 17; DNAJC9 PROTEIN, HUMAN; HEAT SHOCK PROTEIN 40; MICROSATELLITE DNA; NONFIBRILLAR COLLAGEN;

ADOLESCENT; ADULT; AGED; ANIMAL TISSUE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; CORNEA ENDOTHELIUM; CORNEA EROSION; CORNEA STROMA; DNA SEQUENCE; EMBRYO; EPITHELIAL RECURRENT EROSION DYSTROPHY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MALE; MICROSATELLITE MARKER; MIDDLE AGED; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; ALTERNATIVE RNA SPLICING; ANIMAL; CONFOCAL MICROSCOPY; CORNEA EPITHELIUM; CORNEAL DYSTROPHIES, HEREDITARY; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; PEDIGREE; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ZEBRA FISH;

ADOLESCENT; ADULT; AGED; ALTERNATIVE SPLICING; ANIMALS; AUTOANTIGENS; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; DISEASE MODELS, ANIMAL; EPITHELIUM, CORNEAL; FEMALE; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HSP40 HEAT-SHOCK PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MALE; MICROSATELLITE REPEATS; MICROSCOPY, CONFOCAL; MIDDLE AGED; MUTATION; NON-FIBRILLAR COLLAGENS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; ZEBRAFISH;

EID: 84954357822     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2015.12.008     Document Type: Conference Paper

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