P1-8: Bone & minerals

[P1-8-4] Genotype-phenotype correlation in six cases of hypophosphatasia. -c. 1559delT mutation in ALPL presents heterogeneous phenotypes -

^○Junko Kanno¹, Sayaka Kawashima¹, Chisumi Sogi¹, Miki Kamimura¹, Toshimi Michigami², Shigeo Kure¹, Ikuma Fujiwara³ (1.Department of Pediatrics, Tohoku University school of Medicine, 2.Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 3.Department of Pediatric Endocrinology and Environmental Medicine, Tohoku University school of Medicine)