Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic.
Ellison
Jay
J
Mayo Clinic, 55905, Rochester, USA. ellison.jay@mayo.edu
Tebben
Peter
P
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D053098:Familial Hypophosphatemic Rickets / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*
D003062:Codon; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human