The Missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling kindler syndrome

Journal of Investigative Dermatology

Volumn 134, Issue 3, 2014, Pages 845-849

  Has, Cristina ^a   Kiritsi, Dimitra ^a   Mellerio, Jemima E ^b   Franzke, Claus Werner ^a   Wedgeworth, Emma ^b   Tantcheva Poor, Iliana ^c   Kernland Lang, Kristin ^d   Itin, Peter ^e   Simpson, Michael A ^b   Dopping Hepenstal, Patricia J ^f   Fujimoto, Wataru ^g   McGrath, John A ^b   Bruckner Tuderman, Leena ^a,h  

^a UNIVERSITY OF FREIBURG   (Germany)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF BERN   (Switzerland)

^e UNIVERSITY OF BASEL   (Switzerland)

^f ST THOMAS HOSPITAL   (United Kingdom)

^g KAWASAKI MEDICAL SCHOOL   (Japan)

^h UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; COLLAGEN TYPE 4; COLLAGEN TYPE 7;

AMINO ACID SUBSTITUTION; CLINICAL ARTICLE; CORNEA EROSION; DENTAL CARIES; DERMATOGLYPHICS; DERMOEPIDERMAL JUNCTION; ECTROPION; EPIDERMOLYSIS BULLOSA; ESOPHAGUS STENOSIS; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; LACRIMAL DUCT OCCLUSION; LETTER; LOSS OF FUNCTION MUTATION; MICROSTOMIA; MISSENSE MUTATION; NAIL DISEASE; NAIL DYSTROPHY; ORAL BLISTER; POIKILODERMA; PRIORITY JOURNAL; PROTEIN PROCESSING; SCAR FORMATION; SKIN ATROPHY; TRANSMISSION ELECTRON MICROSCOPY; BASEMENT MEMBRANE; CLINICAL FEATURE; IMMUNOHISTOCHEMISTRY;

ADOLESCENT; ADULT; AGED; AUTOANTIGENS; BLISTER; DIAGNOSIS, DIFFERENTIAL; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NON-FIBRILLAR COLLAGENS; PERIODONTAL DISEASES; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; YOUNG ADULT;

EID: 84894034315     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.367     Document Type: Letter

References (18)

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