title: Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. keioz@ped.med.osaka-u.ac.jp
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
authors.forename: Toshimi
authors.initials: T
authors.lastname: Michigami
mesh_terms: D000469:Alkaline Phosphatase / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D044466:Asian People / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007014:Hypophosphatasia / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D007231:Infant, Newborn; D051379:Mice; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D011859:Radiography
chemical_list: C548267:ALPL protein, human; D000469:Alkaline Phosphatase