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01.09.2011 | Short Communication

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

verfasst von: Alan Yancovitch, Dov Hershkovitz, Margareta Indelman, Peter Galloway, Margo Whiteford, Eli Sprecher, Esra Kılıç

Erschienen in: Journal of Bone and Mineral Metabolism | Ausgabe 5/2011

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Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is known to be caused by mutations in at least three genes: FGF23, GALNT3 and KL. Two families with two affected members suffering from HFTC were scrutinized for mutations in these candidate genes. We identified in both families homozygous missense mutations affecting highly conserved amino acids in GALNT3. One of the mutations is a novel mutation, whereas the second mutation was reported before in a compound heterozygous state. Our data expand the spectrum of known mutations in GALNT3 and contribute to a better understanding of the phenotypic manifestations of mutations in this gene.

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Titel: Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis
verfasst von: Alan Yancovitch
Dov Hershkovitz
Margareta Indelman
Peter Galloway
Margo Whiteford
Eli Sprecher
Esra Kılıç
Publikationsdatum: 01.09.2011
Verlag: Springer Japan
Erschienen in: Journal of Bone and Mineral Metabolism / Ausgabe 5/2011
Print ISSN: 0914-8779
Elektronische ISSN: 1435-5604
DOI: https://doi.org/10.1007/s00774-011-0260-1

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