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A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.

We have investigated a patient of English ancestry with familial chylomicronemia caused by lipoprotein lipase (LPL) deficiency. DNA sequence analysis of all exons and intron-exon boundaries of the LPL gene identified two single-base mutations, a T----C transition for codon 86 (TGG) at nucleotide 511...

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Bibliografske podrobnosti
Main Authors: Ishimura-Oka, K, Faustinella, F, Kihara, S, Smith, L C, Oka, K, Chan, L
Format: Artigo
Jezik:Inglês
Izdano: 1992
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682574/
https://ncbi.nlm.nih.gov/pubmed/1598907
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