Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

Ozono, K; Yamagata, M; Michigami, T; Nakajima, S; Sakai, N; Cai, G; Satomura, K; Yasui, N; Okada, S; Nakayama, M

Ozono, K; Yamagata, M; Michigami, T; Nakajima, S; Sakai, N; Cai, G; Satomura, K; Yasui, N; Okada, S; Nakayama, M.

Affiliation

Ozono K; Department of Environmental Medicine, Osaka Medical Center, Japan.

J Clin Endocrinol Metab ; 81(12): 4458-61, 1996 Dec.

Article in En | MEDLINE | ID: mdl-8954059

Subject(s)

Hypophosphatasia/genetics; Mutation; Adult; Alkaline Phosphatase/blood; Alkaline Phosphatase/genetics; DNA, Complementary/analysis; Female; Humans; Infant, Newborn; Male; Polymorphism, Genetic; Pregnancy

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Collection: 01-internacional Database: MEDLINE Main subject: Hypophosphatasia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: J Clin Endocrinol Metab Year: 1996 Type: Article Affiliation country: Japan

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