Clinical utility gene card for: hypophosphatasia.
Mornet
Etienne
E
Unité de Pathologie Cellulaire et Génétique UPRES-EA2493, Faculté de Médecine Paris Ile de France Ouest PRES Universud Paris, University of Versailles Saint Quentin en Yvelines, Versailles, France. emornet@labosesep.org
Beck
Christine
C
Bloch-Zupan
Agnès
A
Girschick
Hermann
H
Le Merrer
Martine
M
D000469:Alkaline Phosphatase / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000235:genetics*; D011296:Prenatal Diagnosis; D018570:Risk Assessment; D012680:Sensitivity and Specificity
C548267:ALPL protein, human; D000469:Alkaline Phosphatase