No enzyme activity of 25-hydroxyvitamin D3 1α-hydroxylase gene product in pseudovitamin d deficiency rickets, including that with mild clinical manifestation

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 11, 1999, Pages 4111-4117

  Kitanaka, Sachiko ^a   Murayama, Akiko ^a   Sakaki, Toshiyuki ^b   Inouye, Kuniyo ^b   Seino, Yoshiki ^c   Fukumoto, Seiji ^a   Shima, Masaaki ^d   Yukizane, Shigenori ^e   Takayanagi, Masaki ^f   Niimi, Hiroo ^g   Takeyama, Ken Ichi ^a   Kato, Shigeaki ^a,h  

^a UNIVERSITY OF TOKYO   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^e KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f CHIBA CHILDREN'S HOSPITAL   (Japan)

^g CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIDIOL 1 MONOOXYGENASE; GENE PRODUCT;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; GENE ISOLATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RICKETS; SEQUENCE ANALYSIS; VITAMIN D DEFICIENCY;

ESCHERICHIA COLI;

EID: 0033306920     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.84.11.6131     Document Type: Article

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