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Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

In 16 members of two Austrian families affected by a missense mutation at codon 188 of the lipoprotein lipase (LPL) gene (8 heterozygous and 8 normal subjects), carrier status for the mutation as determined by DNA analysis was related to LPL activity in postheparin plasma, to the magnitude of postpr...

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Udgivet i:J Clin Invest
Principais autores: Miesenböck, G, Hölzl, B, Föger, B, Brandstätter, E, Paulweber, B, Sandhofer, F, Patsch, J R
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/PMC287952/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8432854/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116222
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