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

J Hum Genet. 2011 Mar;56(3):174-6. doi: 10.1038/jhg.2011.6. Epub 2011 Feb 10.

Authors

Keiichi Ozono¹, Toshimi Michigami

Affiliation

¹ Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. keioz@ped.med.osaka-u.ac.jp

PMID: 21307860
DOI: 10.1038/jhg.2011.6

No abstract available

Publication types

Comment

MeSH terms

Alkaline Phosphatase / genetics*
Alkaline Phosphatase / metabolism
Animals
Asian People / genetics
Heterozygote*
Humans
Hypophosphatasia / diagnostic imaging
Hypophosphatasia / epidemiology
Hypophosphatasia / genetics*
Infant, Newborn
Mice
Mutation / genetics*
Prevalence
Radiography

Substances

ALPL protein, human
Alkaline Phosphatase