Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED)

Human Mutation

Volumn 36, Issue 4, 2015, Pages 463-473

  Jonsson, Frida ^a   Byström, Berit ^a   Davidson, Alice E ^b   Backman, Ludvig J ^a   Kellgren, Therese G ^a   Tuft, Stephen J ^b,c   Koskela, Timo ^d   Rydén, Patrik ^a   Sandgren, Ola ^a   Danielson, Patrik ^a   Hardcastle, Alison J ^b   Golovleva, Irina ^a  

^a UMEÅ UNIVERSITY   (Sweden)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d Koskela Eye Clinic   (Sweden)

Author keywords

BP180; COL17A1; Cornea dystrophy; DdPCR; ERED

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME; CLINICAL ARTICLE; COLLAGEN TYPE XVII ALPHA 1 GENE; CORNEA EROSION; DONOR SITE; DYSTROPHY; EPIDERMOLYSIS BULLOSA; EPITHELIAL RECURRENT EROSION DYSTROPHY; EROSION; EXOME; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INVESTIGATIVE PROCEDURES; MALE; MIDDLE AGED; MUTATOR GENE; PEDIGREE; PRIORITY JOURNAL; RECURRENT DISEASE; RNA SPLICING; SCHOOL CHILD; SKIN DISEASE; SWEDEN; YOUNG ADULT; CORNEA EPITHELIUM; CORNEAL DYSTROPHIES, HEREDITARY; GENE EXPRESSION; GENETIC ASSOCIATION; GENETICS; GENOTYPE; IMMUNOHISTOCHEMISTRY; METABOLISM; MUTATION; ONSET AGE; PATHOLOGY; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY;

AUTOANTIGEN; COLLAGEN TYPE 17; NONFIBRILLAR COLLAGEN;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AUTOANTIGENS; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; EPITHELIUM, CORNEAL; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; NON-FIBRILLAR COLLAGENS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING; YOUNG ADULT;

EID: 84925859470     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22764     Document Type: Article

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