Article
A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.
Endocrinology - 1 Mar 2017
Ichikawa Shoji, Gerard-O'Riley Rita L, Acton Dena, McQueen Amie K, Strobel Isabel E, Witcher Phillip C, Feng Jian Q, Econs Michael J
Abstract excerpt
Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). Hypophosphatemia in ARHR results from increased circulating levels of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH). Previously, we...
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