Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH)....
| Main Authors: | , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Springer-Verlag
2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075400/ |