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Article

Further defining the phenotypic spectrum of B4GALT7 mutations.

American journal of medical genetics. Part A - 1 Jun 2016

Salter Claire G, Davies Justin H, Moon Rebecca J, Fairhurst Joanna, Bunyan David, Foulds Nicola

Abstract excerpt

Proteoglycans are components of the extracellular matrix with diverse biological functions. Defects in proteoglycan synthesis have been linked to several human diseases with common features of short stature, hypermobility, joint dislocations, and skeletal dysplasia. B4GALT7 encodes galactosyltransferase-I that catalyzes the addition of a galactose moiety to a xylosyl group in the tetrasaccharide linker of...

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PMID: 26940150
DOI: 10.1002/ajmg.a.37604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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