A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A

Journal of Pediatric Endocrinology and Metabolism

Volumn 27, Issue 3-4, 2014, Pages 335-341

  Hu, Wei Wei ^a   Ke, Yao Hua ^a   He, Jin Wei ^a   Fu, Wen Zhen ^a   Wang, Chun ^a   Zhang, Hao ^a   Yue, Hua ^a   Gu, Jie Mei ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

Author keywords

CYP27B1 gene; mutation; vitamin D dependent rickets type 1A

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CYP27B1 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR MODEL; PEDIGREE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; RICKETS; VITAMIN D DEPENDENT RICKETS TYPE 1A;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CHILD, PRESCHOOL; CHINA; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; RICKETS;

EID: 84896794200     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2013-0183     Document Type: Article

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