Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

Journal of Clinical Investigation

Volumn 117, Issue 5, 2007, Pages 1240-1248

  Pasmooij, Anna M G ^a   Pas, Hendri H ^a   Bolling, Maria C ^a   Jonkman, Marcel F ^a,b  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ BETA3; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMPUTATION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; KERATINOCYTE; LOWER LEG; MALE; MOSAICISM; NONSENSE MUTATION; PRIORITY JOURNAL; REVERTANT; SEQUENCE ANALYSIS; SKIN BIOPSY;

AMINO ACID SUBSTITUTION; CELL ADHESION MOLECULES; EPIDERMOLYSIS BULLOSA; GENE THERAPY; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MOSAICISM; REMISSION, SPONTANEOUS;

EID: 34248169121     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI30465     Document Type: Article

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