Article
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.
The Journal of clinical endocrinology and metabolism - 1 Nov 2009
Bergwitz Clemens, Banerjee Santanu, Abu-Zahra Hilal, Kaji Hiroshi, Miyauchi Akimitsu, Sugimoto Toshitsugu, Jüppner Harald
Abstract excerpt
BACKGROUND: Homozygous mutations in fibroblast growth factor (FGF23) have recently been described as the genetic cause of one form of hyperphosphatemic tumoral calcinosis (HFTC). However, it remained unclear to date how these mutations lead to loss of biologically active FGF23 in the circulation. METHODS: We here report a novel homozygous mutation, c.385T>C in FGF23 exon 2, which changes codon 129 from serine to...
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