Genetic analysis of hypophosphatasia.
A review is presented of the recent advances in: (i) clinical features, (ii) biochemistry and molecular biology of alkaline phosphatase, (iii) genetic defect in hypophosphatasia, and (iv) prenatal diagnosis. Despite the recent progress, the pathogenesis of hypophosphatasia is far from being elucidated. More clinical cases and further characterization of the alkaline phosphatase gene mutations are needed for better understanding of the clinical spectrum of the entity.
Sato
S
S
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Matsuo
N
N
D000328:Adult; D000469:Alkaline Phosphatase / Q000502:physiology; D001842:Bone and Bones / Q000378:metabolism; D002648:Child; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics*; D007223:Infant; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000469:Alkaline Phosphatase