Article
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
Bone - 1 Oct 2008
Ichikawa Shoji, Traxler Elizabeth A, Estwick Selina A, Curry Leah R, Johnson Michelle L, Sorenson Andrea H, Imel Erik A, Econs Michael J
Abstract excerpt
X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed...
Topics
- 3' Untranslated Regions
- DNA Mutational Analysis
- Familial Hypophosphatemic Rickets
- Genetic Diseases, X-Linked
- Genetic Predisposition to Disease
- Humans
- Mutation
- PHEX Phosphate Regulating Neutral Endopeptidase
- Polymerase Chain Reaction