A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex

Journal of Investigative Dermatology

Volumn 130, Issue 6, 2010, Pages 1551-1557

  Groves, Richard W ^a,b   Liu, Lu ^a   Dopping Hepenstal, Patricia J ^a   Markus, Hugh S ^c   Lovell, Patricia A ^a   Ozoemena, Linda ^a   Lai Cheong, Joey E ^a,b   Gawler, Jeffrey ^d   Owaribe, Katsushi ^e   Hashimoto, Takashi ^f   Mellerio, Jemima E ^a,b   Mee, John B ^b   McGrath, John A ^b  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d Nagoya University ^*  (United Kingdom)

^e NAGOYA UNIVERSITY   (Japan)

^f KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BECLIN 1; BETA4 INTEGRIN; BULLOUS PEMPHIGOID ANTIGEN 1; COLLAGEN TYPE 17; ISOPROTEIN; MESSENGER RNA; NOTCH3 RECEPTOR; PLECTIN;

ADULT; AMINO ACID SUBSTITUTION; ANKLE; ARTERY DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CADASIL; CASE REPORT; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA SIMPLEX; EROSION; GENE MUTATION; GENOTYPE; HEMIDESMOSOME; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARESTHESIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN FRAGILITY; TRANSMISSION ELECTRON MICROSCOPY;

EID: 77952431203     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.19     Document Type: Article

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