Article
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
The Journal of clinical endocrinology and metabolism - 1 Aug 2001
Holm I A, Nelson A E, Robinson B G, Mason R S, Marsh D J, Cowell C T, Carpenter T O
Abstract excerpt
PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 patients in whom all 22 PHEX exons were studied. In 13 patients, in whom no PHEX mutation had been previously detected in 17 exons, the remaining 5 PHEX exons were analyzed and mutations found in 6 patients. Twenty different mutations were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.