Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

British Journal of Dermatology

Volumn 161, Issue 5, 2009, Pages 1089-1097

  Kern, J S ^a,b   Gruninger G ^a   Imsak, R ^a   Muller M L ^a   Schumann, H ^a   Kiritsi, D ^a   Emmert, S ^c   Borozdin, W ^b   Kohlhase, J ^b   Bruckner Tuderman, L ^a,b   Has, C ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Collagen VII; Large deletion; Skin blistering; Splice site mutation

Indexed keywords

COLLAGEN TYPE 7; INTERSTITIAL COLLAGENASE;

ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA MODIFICATION; DNA SPLICING; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EUROPE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SQUAMOUS CELL CARCINOMA;

CODON, NONSENSE; COHORT STUDIES; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MATRIX METALLOPROTEINASE 1; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 71949089798     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09333.x     Document Type: Article

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