Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia.
Bertola
Francesca
F
University of Milano-Bicocca, Monza, Italy.
Arosio
C
C
Casati
G
G
Piperno
A
A
Crosti
F
F
Colombo
C
C
D000469:Alkaline Phosphatase / Q000172:deficiency* / Q000235:genetics*; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000196:embryology / Q000201:enzymology* / Q000235:genetics*; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011247:Pregnancy
D003062:Codon; D000469:Alkaline Phosphatase