Sample records for lipase (lipase)

Sample records 1 - 20 shown. Select sample records:


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)