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

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 12, 1996, Pages 4458-4461

  Ozono, Keiichi ^a   Yamagata, Masayo ^a   Michigami, Toshimi ^a   Nakajima, Shigeo ^a   Sakai, Norio ^a   Cai, Guiming ^b   Satomura, Kenichi ^a   Yasui, Natsuo ^a   Okada, Shintaro ^b   Nakayama, Masahiro ^a  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HYPOPHOSPHATASIA; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL;

ADULT; ALKALINE PHOSPHATASE; DNA, COMPLEMENTARY; FEMALE; HUMANS; HYPOPHOSPHATASIA; INFANT, NEWBORN; MALE; MUTATION; POLYMORPHISM, GENETIC; PREGNANCY;

EID: 10544254690     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.12.4458     Document Type: Article

References (22)

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