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Literature summary for 2.4.1.225 extracted from

  • Roberts, I.S.; Gleadle, J.M.
    Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation (2008), J. Am. Soc. Nephrol., 19, 450-453.
    View publication on PubMed

Application

Application Comment Organism
medicine there is deficiency of heparan sulfate and perlecan, together with accumulation of collagens in the matrix of EXT1-associated osteosarcomas Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
exostosin-1
-
Homo sapiens
EXT-1
-
Homo sapiens