Clinical utility gene card for: hypophosphatasia.
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
Etienne
E
Mornet
Christine
C
Beck
Agnès
A
Bloch-Zupan
Hermann
H
Girschick
Martine
M
Le Merrer
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