학술논문
Etiological Point Mutations in the Hereditary Multiple Exostoses Gene EXT1: A Functional Analysis of Heparan Sulfate Polymerase Activity.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*CELL lines
*PROTEINS
*
*
Language
ISSN
0002-9297
Abstract
Tests the missense mutant exostosin proteins for their ability to rescue heparan sulfate biosynthesis in vivo using a functional assay that detects heparan sulfate expression on the cell surface of an exostosin-1 deficient cell line. Missense mutations in exostosin-1; Effect of substitution or deletion of four active mutations on heparan sulfate biosynthesis; Characterization of active exostosin-1 etiological mutants.