Article
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Nephron. Physiology - 1 Jan 2006
Lo Fu-Sung, Kuo Min-Tzu, Wang Chao-Jan, Chang Chia-Hsieh, Lee Zhon-Liau, Van Yang-Hau
Abstract excerpt
BACKGROUND: X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disease characterized by renal phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization. The disease is caused by mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) located at Xp22.1. To date, a variety of PHEX mutations have been...
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