A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion.
Kobayashi J.; Inadera H.; Fujita Y.; Talley G.; Morisaki N.; Yoshida S.; Saito Y.; Fojo S.S.; Brewer H.B. Jr.;
Biochem. Biophys. Res. Commun. 205:506-515(1994)
Cited for: VARIANT LPL DEFICIENCY SER-70; CHARACTERIZATION OF VARIANT LPL DEFICIENCY SER-70;
Mutations in Japanese subjects with primary hyperlipidemia -- results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996.
Maruyama T.; Yamashita S.; Matsuzawa Y.; Bujo H.; Takahashi K.; Saito Y.; Ishibashi S.; Ohashi K.; Shionoiri F.; Gotoda T.; Yamada N.; Kita T.;
J. Atheroscler. Thromb. 11:131-145(2004)
Cited for: VARIANTS LPL DEFICIENCY SER-70; ARG-132; VAL-181; GLU-215; THR-221; ARG-225; ALA-227; GLU-231; CYS-270; HIS-270; THR-288; LEU-297; ARG-305; PHE-330 AND THR-361;
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