Article
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
Bone - 1 Jan 2013
Durmaz Erdem, Zou Minjing, Al-Rijjal Roua A, Baitei Essa Y, Hammami Sumaya, Bircan Iffet, Akçurin Sema, Meyer Brian, Shi Yufei
Abstract excerpt
X-linked hypophosphatemic rickets (XLH) is the most common inherited rickets. XLH is caused by inactivating mutations in the PHEX gene and is transmitted as an X-linked dominant disorder. We investigated PHEX mutation in 10 patients from 6 unrelated Turkish families by PCR-sequence analysis. Six different PHEX mutations were detected in the patients. Four of them were novel: c.1217G>A (p.C406Y) in exon 11,...
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