Title : Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.

Pub. Date : 2018 Apr

PMID : 29541207






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Mutations to exostosin-1 (EXT1) and EXT2 mutations cause insufficient heparan sulfate biosynthesis, leading to chondrocyte proliferation, abnormal bone growth in neighboring regions, multiple exostoses, and ultimately malignant transformation. Heparitin Sulfate exostosin glycosyltransferase 1 Homo sapiens
2 Mutations to exostosin-1 (EXT1) and EXT2 mutations cause insufficient heparan sulfate biosynthesis, leading to chondrocyte proliferation, abnormal bone growth in neighboring regions, multiple exostoses, and ultimately malignant transformation. Heparitin Sulfate exostosin glycosyltransferase 1 Homo sapiens