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Article

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.

Journal of bone and mineral metabolism - 1 Sept 2011

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21347749
DOI: 10.1007/s00774-011-0260-1

Genes

GALNT3
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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