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- Q14905580 subject Q8420217.
- Q14905580 abstract "Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.Alpha-Fucosidase is an enzyme that breaks down fucose.Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM]".
- Q14905580 entrezgene "2517".
- Q14905580 wikiPageWikiLink Q177878.
- Q14905580 wikiPageWikiLink Q409082.
- Q14905580 wikiPageWikiLink Q4734903.
- Q14905580 wikiPageWikiLink Q7187.
- Q14905580 wikiPageWikiLink Q7935646.
- Q14905580 wikiPageWikiLink Q8047.
- Q14905580 wikiPageWikiLink Q8420217.
- Q14905580 type Biomolecule.
- Q14905580 type Protein.
- Q14905580 type Thing.
- Q14905580 type Q206229.
- Q14905580 type Q8054.
- Q14905580 comment "Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.Alpha-Fucosidase is an enzyme that breaks down fucose.Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues.".
- Q14905580 label "Fucosidase".