Literature summary for 3.4.24.B15 extracted from

Clausmeyer, S.; Hesse, V.; Clemens, P.C.; Engelbach, M.; Kreuzer, M.; Becker-Rose, P.; Spital, H.; Schulze, E.; Raue, F.
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets (2009), Calcif. Tissue Int., 85, 211-220.

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Application

Application	Comment	Organism
medicine	PHEX is the key enzyme in the pathogenesis of X-linked hypophosphatemic rickets. Mutational analysis of the PHEX gene reveals three point mutations and two amino acid changes which may be rare polymorphisms, as well as a small deletion, found as a mosaic in the affected patient. Early diagnosis of possibly affected children by molecular genetic analysis is of great importance because it allows early therapeutic intervention before manifestation of skeletal deformities occurs, thereby improving the clinical outcomes	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P78562	-	-

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Release 2023.1 (January 2023)