Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa

Journal of Medical Genetics

Volumn 48, Issue 7, 2011, Pages 450-457

  Kiritsi, Dimitra ^a   Kern, Johannes S ^a   Schumann, Hauke ^a   Kohlhase, Jürgen ^b   Has, Cristina ^a   Bruckner Tuderman, Leena ^a,c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Center for Human Genetics Freiburg   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; MESSENGER RNA;

ADULT; AGED; ARTICLE; CELL CULTURE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; MALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AUTOANTIGENS; BASE SEQUENCE; CHILD; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; GENE EXPRESSION REGULATION; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; NON-FIBRILLAR COLLAGENS; PHENOTYPE; RNA SPLICE SITES; SEQUENCE ALIGNMENT; SKIN; YOUNG ADULT;

EID: 79960296684     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.086751     Document Type: Article

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