Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

Funke, H; von Eckardstein, A; Pritchard, P H; Hornby, A E; Wiebusch, H; Motti, C; Hayden, M R; Dachet, C; Jacotot, B; Gerdes, U

Funke, H; von Eckardstein, A; Pritchard, P H; Hornby, A E; Wiebusch, H; Motti, C; Hayden, M R; Dachet, C; Jacotot, B; Gerdes, U.

Affiliation

Funke H; Department of Clinical Chemistry, University of Münster, Federal Republic of Germany.

J Clin Invest ; 91(2): 677-83, 1993 Feb.

Article in En | MEDLINE | ID: mdl-8432868

Subject(s)

Alleles; Lecithin Cholesterol Acyltransferase Deficiency/genetics; Phosphatidylcholine-Sterol O-Acyltransferase/genetics; Adolescent; Adult; Base Sequence; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Phenotype; Phosphatidylcholine-Sterol O-Acyltransferase/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alleles / Phosphatidylcholine-Sterol O-Acyltransferase / Lecithin Cholesterol Acyltransferase Deficiency Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: J Clin Invest Year: 1993 Type: Article

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