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.

The presence of lecithin:cholesterol acyltransferase (LCAT) deficiency in six probands from five families originating from four different countries was confirmed by the absence or near absence of LCAT activity. Also, other invariate symptoms of LCAT deficiency, a significant increase of unesterified...

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Detalhes bibliográficos
Main Authors: Funke, H, von Eckardstein, A, Pritchard, P H, Hornby, A E, Wiebusch, H, Motti, C, Hayden, M R, Dachet, C, Jacotot, B, Gerdes, U
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC288009/
https://ncbi.nlm.nih.gov/pubmed/8432868
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