Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient

Journal of Genetics

Volumn 90, Issue 2, 2011, Pages 339-342

  Cao, Lihua ^a   Liu, Fang ^a   Wang, Yu ^a   Ma, Jian ^a   Wang, Shusen ^a   Wang, Libo ^a   Zhang, Yang ^a   Chen, Chen ^a   Luo, Yang ^a   Ma, Hongwei ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

1,25(OH)2D; 25 hydroxyvitamin D 1 hydroxylase; CYP27B1; Vitamin D dependent rickets type 1

Indexed keywords

STEROID MONOOXYGENASE; VITAMIN D 1 ALPHA HYDROXYLASE; VITAMIN D 1-ALPHA HYDROXYLASE;

ARTICLE; ASIAN; CASE REPORT; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; HUMAN; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; RADIOGRAPHY; RICKETS; WRIST;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; MUTATION, MISSENSE; RICKETS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; STEROID HYDROXYLASES; WRIST;

EID: 80053132247     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-011-0070-1     Document Type: Article

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