[Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis].
Complejo Hospitalario Universitario de Vigo. Hospital do Meixoeiro, 36200 Vigo, Espana.
Alfonso
A
Amado-Puentes
Óscar
Ó
Blanco-Barca
M José
MJ
Coll
M José
MJ
Sobrido
D000015:Abnormalities, Multiple / Q000235:genetics; D002478:Cells, Cultured; D002648:Child; D018389:Codon, Nonsense; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D016537:Gangliosidosis, GM1 / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008247:Lysosomes / Q000201:enzymology / Q000648:ultrastructure; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics; D001616:beta-Galactosidase / Q000235:genetics
D018389:Codon, Nonsense; C061901:GLB1 protein, human; D001616:beta-Galactosidase