title: Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia.
authors.affiliation: University of Milano-Bicocca, Monza, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Bertola
authors.forename: C
authors.initials: C
authors.lastname: Arosio
authors.forename: G
authors.initials: G
authors.lastname: Casati
authors.forename: A
authors.initials: A
authors.lastname: Piperno
authors.forename: F
authors.initials: F
authors.lastname: Crosti
authors.forename: C
authors.initials: C
authors.lastname: Colombo
mesh_terms: 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
chemical_list: D003062:Codon; D000469:Alkaline Phosphatase