Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.

In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the...

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Bibliographic Details
Main Authors: Emi, M, Hata, A, Robertson, M, Iverius, P H, Hegele, R, Lalouel, J M
Format: Artigo
Language:Inglês
Published: 1990
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683742/
https://ncbi.nlm.nih.gov/pubmed/2349938
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