Mutation in CYP27A1 identified in family with coronary artery disease

European Journal of Medical Genetics

Volumn 56, Issue 12, 2013, Pages 655-660

  InanlooRahatloo, Kolsoum ^a,b   Zand Parsa, Amir Farhang ^c   Huse, Klaus ^b   Rasooli, Paniz ^a   Davaran, Saeid ^d   Platzer, Matthias ^b   Fan, Jian Bing ^e   Amini, Sasan ^e   Steemers, Frank ^e   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e ILLUMINA INC   (United States)

Author keywords

Coronary artery disease; CYP27A1; Exome sequencing; Reverse cholesterol transport

Indexed keywords

ALANINE; ARGININE; CHOLESTANETRIOL 26 MONOOXYGENASE; HISTIDINE; METHIONINE; VALINE; VITAMIN D;

ADULT; ARTICLE; ATHEROSCLEROSIS; CAUSE OF DEATH; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CYP27A1 GENE; DISEASE SEVERITY; EXOME; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEART INFARCTION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS; VITAMIN D METABOLISM;

CORONARY ARTERY DISEASE; CYP27A1; EXOME SEQUENCING; REVERSE CHOLESTEROL TRANSPORT;

AGE OF ONSET; AGED; CASE-CONTROL STUDIES; CHOLESTANETRIOL 26-MONOOXYGENASE; CHOLESTEROL; CORONARY ARTERY DISEASE; EXOME; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; VITAMIN D;

EID: 84888047581     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.09.008     Document Type: Article

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