Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene

Human Mutation

Volumn 8, Issue 1, 1996, Pages 79-82

  Owen, James S ^a   Wiebusch, Heiko ^b   Cullen, Paul ^b   Watts, Gerald F ^c   Lima, Vera L M ^a   Funke, Harald ^b   Assmann, Gerd ^b  

^a ROYAL FREE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; PHOSPHATIDYLCHOLINE; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; CORNEA OPACITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPOCHOLESTEROLEMIA; MALE; PRIORITY JOURNAL;

ADULT; FEMALE; GLYCINE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; LIPIDS; MALE; MUTATION; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; SERINE;

EID: 0029937074     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<79::AID-HUMU13>3.0.CO;2-O     Document Type: Article

References (15)

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