Inactivating mutations in the 25-hydroxyvitamin D3 1α-hydroxylase gene in patients with pseudovitamin D-deficiency rickets

New England Journal of Medicine

Volumn 338, Issue 10, 1998, Pages 653-661

  Kitanaka, Sachiko ^a   Takeyama, Ken Ichi ^a   Murayama, Akiko ^a   Sato, Takashi ^a   Okumura, Katsuzumi ^c   Nogami, Masahiro ^c   Hasegawa, Yukihiro ^d   Niimi, Hiroo ^e   Yanagisawa, Junn ^a   Tanaka, Toshiaki ^f   Kato, Shigeaki ^a,b  

^a UNIVERSITY OF TOKYO   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c MIE UNIVERSITY   (Japan)

^d Tokyo Metropol Kiyose Children's H   (Japan)

^e CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; CALCIFEDIOL; ERGOCALCIFEROL; OXYGENASE;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 12Q; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RICKETS; VITAMIN D DEFICIENCY;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; RICKETS; SEQUENCE ANALYSIS, DNA; VITAMIN D DEFICIENCY;

EID: 0032485525     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199803053381004     Document Type: Article

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