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

J Genet. 2011 Aug;90(2):339-42. doi: 10.1007/s12041-011-0070-1.

Authors

Lihua Cao¹, Fang Liu, Yu Wang, Jian Ma, Shusen Wang, Libo Wang, Yang Zhang, Chen Chen, Yang Luo, Hongwei Ma

Affiliation

¹ The Research Center for Medical Genomics, China Medical University, North 2nd Road 92, Heping Ward, Shenyang 110001, People's Republic of China.

PMID: 21869486
DOI: 10.1007/s12041-011-0070-1

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Base Sequence
Frameshift Mutation*
Humans
Infant
Male
Mutation, Missense*
Radiography
Rickets / diagnosis
Rickets / diagnostic imaging
Rickets / genetics*
Sequence Analysis, DNA
Sequence Deletion*
Steroid Hydroxylases / genetics*
Wrist / diagnostic imaging

Substances

Steroid Hydroxylases
vitamin D 1-alpha hydroxylase