Novel human pathological mutations. Gene symbol: LAMA3. Disease: junctional epidermolysis bullosa.
Mühle
Christiane
C
Medical University of Innsbruck, Paediatrics/Experimental Neonatology, Innrain, 66, 6020, Innsbruck, Austria. christiane.muehle@i-med.ac.at
Schneider
H
H
D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D007797:Laminin / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics
D007797:Laminin; C095567:laminin alpha 3