Novel and de novo PHEX mutations in patients with hypophosphatemic rickets. [electronic resource]
Producer: 20130325Description: 286-91 p. digitalISSN:- 1873-2763
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Child
- Child, Preschool
- Familial Hypophosphatemic Rickets -- genetics
- Female
- Genetic Diseases, X-Linked
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- PHEX Phosphate Regulating Neutral Endopeptidase -- chemistry
- Polymerase Chain Reaction
- Sequence Homology, Amino Acid
- Turkey
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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