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A novel Phex mutation in a new mouse model of hypophosphatemic rickets

✍ Scribed by Celeste Owen; Frieda Chen; Ann M. Flenniken; Lucy R. Osborne; Shoji Ichikawa; S. Lee Adamson; Janet Rossant; Jane E. Aubin


Book ID
112120166
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
667 KB
Volume
113
Category
Article
ISSN
0730-2312

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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