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
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
β Scribed by Mary D. Ruppe; Patrick G. Brosnan; Kit Sing Au; Phong X. Tran; Barbara W. Dominguez; Hope Northrup
- Book ID
- 108704784
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 77 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0300-0664
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## Abstract Hypophosphatemic rickets (HR) are diseases characterized by deficient mineralization of bone due to abnormal renal wasting of phosphate. Deformation of bony structures of cartilaginous origin has been described as a major characteristic in patients with HR, but little is known about the