Gene symbol: LAMB3. Disease: junctional epidermolysis bullosa, Herlitz variant.
Schneider
H
H
Children's Hospital and Department of Experimental Medicine I, Nikolaus fiebiger Centre of Molecular Medicine, University of Erlangen-Nuernberg, Germanyy. hschneid@molmed.uni-erlangen.de
Muehle
C
C
D019943:Amino Acid Substitution; D001485:Basement Membrane; D001706:Biopsy; D015815:Cell Adhesion Molecules / Q000032:analysis* / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D000097794:Kalinin
D015815:Cell Adhesion Molecules; D018389:Codon, Nonsense; D000097794:Kalinin