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Richard, Gabriele

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Item Type	Name
Concept	N-Acetylgalactosaminyltransferases
Academic Article	GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
Academic Article	Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis.
Academic Article	Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
Academic Article	A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Academic Article	Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

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N Acetylgalactosaminyltransferases

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