T → G or T → A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: Intron retention causing LCAT deficiency

Biochimica et Biophysica Acta - Lipids and Lipid Metabolism

Volumn 1391, Issue 2, 1998, Pages 256-264

  Li, Min ^a   Kuivenhoven, Jan Albert ^a   Ayyobi, Amir F ^a   Pritchard, P Haydn ^a  

^a Dept Pathol Lab Med St P ^*  (Canada)

Author keywords

Branchpoint sequence; Intron mutation; Lecithin:cholesterol acyltransferase deficiency; Site directed mutagenesis

Indexed keywords

PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; DNA; RNA PRECURSOR;

ANIMAL CELL; ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; HYPOLIPOPROTEINEMIA; INTRON; LIPID METABOLISM; LIPOPROTEIN METABOLISM; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; ANIMAL; BIOLOGICAL MODEL; CELL LINE; CONSENSUS SEQUENCE; ENZYMOLOGY; EYE MALFORMATION; FEMALE; GENE EXPRESSION; GENETIC TRANSFECTION; GENETICS; HAMSTER; HETEROZYGOTE; HUMAN; METABOLISM; POINT MUTATION; RNA SPLICING;

ANIMALS; BASE SEQUENCE; CELL LINE; CONSENSUS SEQUENCE; CRICETINAE; DNA; EYE ABNORMALITIES; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; INTRONS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MODELS, BIOLOGICAL; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA PRECURSORS; RNA SPLICING; TRANSFECTION;

EID: 0032579717     PISSN: 00052760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0005-2760(97)00198-7     Document Type: Article

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