Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection

Journal of Lipid Research

Volumn 37, Issue 10, 1996, Pages 2065-2073

  Sakai, Naohiko ^a   Santamarina Fojo, Silvia ^a   Yamashita, Shizuya ^b   Matsuzawa, Yuji ^b   Brewer Jr , H Bryan ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

athero sclerosis; cholesteryl ester transfer protein (CETP); deficiency; high density lipoprotein (HDL); hyperalphalipoproteinemia; mutation; skipping; splicing

Indexed keywords

APOLIPOPROTEIN A1; CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN;

ADULT; ARTICLE; ATHEROSCLEROSIS; CASE REPORT; EXON; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; HYPERLIPOPROTEINEMIA; INTRON; MALE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RNA SPLICING;

BASE SEQUENCE; CARRIER PROTEINS; CHOLESTEROL ESTER TRANSFER PROTEINS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; EXONS; GLYCOPROTEINS; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; RNA-DIRECTED DNA POLYMERASE; SEQUENCE ANALYSIS, DNA;

EID: 0029859668     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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