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Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

✍ Scribed by Erdem Durmaz; Minjing Zou; Roua A. Al-Rijjal; Essa Y. Baitei; Sumaya Hammami; İffet Bircan; Sema Akçurin; Brian Meyer; Yufei Shi


Book ID
119204334
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
493 KB
Volume
52
Category
Article
ISSN
8756-3282

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We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of wh