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A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency

โœ Scribed by Atsuko Takagi; Yasuyuki Ikeda; Eiji Takeda; Akira Yamamoto


Book ID
117617760
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
532 KB
Volume
1502
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.