High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

Human Mutation

Volumn 32, Issue 11, 2011, Pages 1290-1298

  Holleboom, Adriaan G ^a   Kuivenhoven, Jan A ^a   Peelman, Frank ^b   Schimmel, Alinda W ^a   Peter, Jorge ^a   Defesche, Joep C ^a   Kastelein, John J P ^a   Hovingh, G Kees ^a   Stroes, Erik S ^a   Motazacker, Mohammad Mahdi ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Department of Medical Protein Research ^*  (Belgium)

Author keywords

Familial LCAT deficiency; Fish eye disease; Hypoalphalipoproteinemia

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; AGED; ANIMAL CELL; ARTICLE; ATHEROSCLEROSIS; CHILD; CONTROLLED STUDY; FEMALE; FUNCTIONAL GENOMICS; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LCAT GENE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NETHERLANDS; NONHUMAN; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE;

ADULT; AGED; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; CHOLESTEROL, HDL; CORNEAL OPACITY; COS CELLS; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; PREVALENCE;

EID: 80054712848     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21578     Document Type: Article

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