Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients

Bone

Volumn 51, Issue 3, 2012, Pages 563-569

  Cui, Ningyi ^a   Xia, Weibo ^a   Su, Hua ^a   Pang, Li ^a   Jiang, Yan ^a   Sun, Yue ^a   Nie, Min ^a   Xing, Xiaoping ^a   Li, Mei ^a   Wang, Ou ^a   Yuan, Tao ^a   Chi, Yue ^a   Hu, Yingying ^a   Liu, Huaicheng ^a   Meng, Xunwu ^a   Zhou, Xueying ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

1 Hydroxylase; CYP27B1 gene; Mutations; Pseudo vitamin D deficiency rickets

Indexed keywords

CALCIDIOL 1 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CORRELATION ANALYSIS; CYP27B1 GENE; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; GENE; GENE DELETION; GENE INSERTION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; RICKETS; SCHOOL CHILD; VITAMIN D DEPENDENT RICKETS TYPE 1; WILD TYPE;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; PEDIGREE; RICKETS; VITAMIN D DEFICIENCY;

EID: 84864768437     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.05.006     Document Type: Article

References (25)

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