Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity

Human Molecular Genetics

Volumn 20, Issue 9, 2011, Pages 1811-1819

  Pigors, Manuela ^a   Kiritsi, Dimitra ^a   Krümpelmann, Sebastian ^b   Wagner, Nicola ^c   He, Yinghong ^a   Podda, Maurizio ^c   Kohlhase, Jürgen ^d   Hausser, Ingrid ^e   Bruckner Tuderman, Leena ^a   Has, Cristina ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Princess Margaret Children's Hospital   (Germany)

^c Department of Dermatology   (Germany)

^d Center for Human Genetics   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; CYTOSINE; GRANULOCYTE COLONY STIMULATING FACTOR; PLAKOGLOBIN; TYROSINE;

ANEMIA; ANTIBIOTIC THERAPY; ARTICLE; CASE REPORT; CELL ADHESION; CELL JUNCTION; CELL MEMBRANE; CONTROLLED STUDY; DEHYDRATION; DESMOSOME; EPIDERMOLYSIS BULLOSA; ERYTHROCYTE; FEMALE; GENE MUTATION; GENETICS; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; INFECTION; KERATINOCYTE; NEWBORN; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SKIN FRAGILITY; THROMBOCYTE; THROMBOCYTOPENIA;

ANIMALS; BASE SEQUENCE; CODON, NONSENSE; EPIDERMOLYSIS BULLOSA; FATAL OUTCOME; FEMALE; GAMMA CATENIN; HUMANS; INFANT, NEWBORN; MICE; MOLECULAR SEQUENCE DATA; SKIN;

MURINAE;

EID: 79954558531     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr064     Document Type: Article

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