Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. [electronic resource]
Producer: 20110203Description: p17-21 p. digitalISSN:- 1660-2137
- Adult
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Familial Hypophosphatemic Rickets -- diagnostic imaging
- Female
- Genetic Diseases, X-Linked
- Genetic Predisposition to Disease
- Heredity
- Humans
- India -- ethnology
- PHEX Phosphate Regulating Neutral Endopeptidase -- genetics
- Pedigree
- Phenotype
- Radiography
- Singapore
- Vitamin D Deficiency -- complications
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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