Sample records for lipase (lipase)
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7

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

Iverius, P H; Emi, M; Robertson, M; Hata, A; Hegele, R; Lalouel, J M

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 ...

DRIVER (German)