title: Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient.
authors.affiliation: The Research Center for Medical Genomics, China Medical University, North 2nd Road 92, Heping Ward, Shenyang 110001, People's Republic of China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Cao
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Ma
authors.forename: Shusen
authors.initials: S
authors.lastname: Wang
authors.forename: Libo
authors.initials: L
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhang
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.forename: Yang
authors.initials: Y
authors.lastname: Luo
authors.forename: Hongwei
authors.initials: H
authors.lastname: Ma
mesh_terms: D044466:Asian People; D001483:Base Sequence; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D011859:Radiography; D012279:Rickets / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013250:Steroid Hydroxylases / Q000235:genetics*; D014953:Wrist / Q000000981:diagnostic imaging
chemical_list: D013250:Steroid Hydroxylases; C406322:vitamin D 1-alpha hydroxylase