A monoallelic UXS1 variant associated with short‐limbed short stature
A monoallelic UXS1 variant associated with short‐limbed short stature
About this item
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Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
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Contents
Background
Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP‐glucuronate decarboxylase 1, which catalyzes synthesis of UDP‐xylose, the donor of the first building block in the linker. Defects in other enzymes involved in formation of th...
Alternative Titles
Full title
A monoallelic UXS1 variant associated with short‐limbed short stature
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_dc7662c3d97b439ab41d265a01d9ab8e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dc7662c3d97b439ab41d265a01d9ab8e
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2472
