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Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.

Goseki-Sone M., Orimo H., Iimura T., Takagi Y., Watanabe H., Taketa K., Sato S., Mayanagi H., Shimada T., Oida S.

Hum. Mutat. Suppl. 1:S263-S267(1998) [PubMed] [Europe PMC]