Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
Herasse
M
M
Spentchian
M
M
Taillandier
A
A
Keppler-Noreuil
K
K
Fliorito
A N M
AN
Bergoffen
J
J
Wallerstein
R
R
Muti
C
C
Simon-Bouy
B
B
Mornet
E
E
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D000818:Animals; D019556:COS Cells; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D003731:Dental Caries / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007014:Hypophosphatasia / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D016297:Mutagenesis, Site-Directed / Q000235:genetics; D009154:Mutation; D020125:Mutation, Missense / Q000235:genetics; D009928:Organ Specificity / Q000235:genetics; D010375:Pedigree; D020836:Protein Structure, Quaternary / Q000235:genetics; D014076:Tooth Diseases / Q000097:blood / Q000201:enzymology / Q000235:genetics*
D000469:Alkaline Phosphatase