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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Publicat a:J Clin Invest
Autors principals: Funke, H, von Eckardstein, A, Pritchard, P H, Hornby, A E, Wiebusch, H, Motti, C, Hayden, M R, Dachet, C, Jacotot, B, Gerdes, U
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1993
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288009/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8432868/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116248
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