Publication | Closed Access

Mutational Analysis of the PHEX Gene: Novel Point Mutations and Detection of Large Deletions by MLPA in Patients with X-Linked Hypophosphatemic Rickets

Mutational AnalysisGenetic DisorderMedicineGeneticsPhex GeneMolecular BiologyMolecular GeneticsNovel Point MutationsDisease Gene IdentificationMolecular DiagnosticsBioinformaticsProtein PhosphorylationVariant Interpretation