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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Bibliografiske detaljer
Udgivet i:J Clin Invest
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
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1993
Fag:
Research Article
Online adgang: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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