Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

British Journal of Dermatology

Volumn 172, Issue 1, 2015, Pages 94-100

  Takeichi, T ^a,b   Liu, L ^c   Fong, K ^a   Ozoemena, L ^c   McMillan, J R ^c   Salam, A ^a   Campbell, P ^a,d   Akiyama, M ^b   Mellerio, J E ^a,e   McLean, W H I ^f   Simpson, M A ^a   McGrath, J A ^a,f  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d UNIVERSITY OF HULL   (United Kingdom)

^e GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; CELL ADHESION MOLECULE; COL7A1 PROTEIN, HUMAN; COLLAGEN TYPE 7; FERMT1 PROTEIN, HUMAN; KALININ; MEMBRANE PROTEIN; PLEC PROTEIN, HUMAN; PLECTIN; TUMOR PROTEIN;

ADULT; ANTIBODY LABELING; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DERMOEPIDERMAL JUNCTION; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXOME; FEMALE; FERMT1 GENE; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAIR LOSS; HETEROZYGOSITY; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOHISTOCHEMISTRY; LABORATORY DIAGNOSIS; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; MISSENSE MUTATION; MUSCLE HYPOTONIA; NAIL DYSTROPHY; PAKISTANI; PATHOPHYSIOLOGY; PHOTOSENSITIVITY; POIKILODERMA; PRIORITY JOURNAL; RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SKINFOLD; TRANSMISSION ELECTRON MICROSCOPY; YOUNG ADULT; CASE REPORT; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; NEWBORN; PROCEDURES;

ADULT; CELL ADHESION MOLECULES; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; EXOME; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; PLECTIN;

EID: 84920738404     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13190     Document Type: Article

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