Gene symbol: LAMC2. Disease: Epidermolysis Bullosa, Herlitz.
Medical University of Innsbruck, Departments of Paediatrics/ Experimental Neonatology, Innrain, 66, 6020, Innsbruck, Austria. holm.schneider@i-med.ac.at
Holm
H
Schneider
Christiane
C
Muehle
D018389:Codon, Nonsense / Q000235:genetics*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D005455:Fluorescent Antibody Technique; D006720:Homozygote; D006801:Humans; D007223:Infant; D007797:Laminin / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D012867:Skin / Q000378:metabolism / Q000473:pathology
D018389:Codon, Nonsense; C400567:LAMC2 protein, human; D007797:Laminin