Gene symbol: LAMP2. Disease: Danon disease.
Ospedali Riuniti, Molecular Genetics Lab and Cardiovascular Department, Largo Barozzi, 2, 24128, Bergamo, Italy. miascone@ospedaliriuniti.bergamo.it
Maria
M
Iascone
Attilio
A
Iacovoni
Daniela
D
Marchetti
Paolo
P
Ferrazzi
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics*; D016027:Heart Transplantation; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*
D018389:Codon, Nonsense; C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins