Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.

Chandran, M

Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. [electronic resource] - Nephron. Physiology 2010 - p17-21 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1660-2137

10.1159/000319318 doi


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