A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS). [electronic resource]
Producer: 20140623Description: 269-71 p. digitalISSN:- 1879-0038
- Amino Acid Substitution
- Child, Preschool
- Computer Simulation
- Fibroblast Growth Factor-23
- Fibroblast Growth Factors -- chemistry
- Homozygote
- Humans
- Hyperostosis -- genetics
- Hyperphosphatemia -- genetics
- Male
- Mutation, Missense
- N-Acetylgalactosaminyltransferases -- genetics
- Protein Conformation
- Polypeptide N-acetylgalactosaminyltransferase
No physical items for this record
Publication Type: Case Reports; Letter
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