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A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency

โœ Scribed by Gotoda, Takanari; Yamada, Nobuhiro; Murase, Toshio; Miyake, Susumu; Murakami, Ryuko; Kawamura, Masako; Kozaki, Koichi; Mori, Natsuko; Shimano, Hitoshi; Shimada, Masako; Yazaki, Yoshio


Book ID
122377681
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
354 KB
Volume
1138
Category
Article
ISSN
0925-4439

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Familial lipoprotein lipase (LPL) defici
โœ France Mailly; Jutta Palmen; David P. R. Muller; Tracy Gibbs; June Lloyd; John B ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 232 KB ๐Ÿ‘ 1 views

## Communicated by Ellen Solomon The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (Monsalve et al.