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Compound heterozygosity of novel missense mutations (Ser(45) -> Gly, CYS278 -> Arg) in the lipoprotein lipase gene in a newborn Korean infant

Lee, JangHoon;
Ko, KwangMin;
Lee, JungHwa;
Lee, KwangChul;
Son, ChangSung;
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2

키워드

N-LINKED GLYCOSYLATION; LPL GENE; DEFICIENCY; HYPERTRIGLYCERIDEMIA; EXPRESSION; SECRETION

제목: Compound heterozygosity of novel missense mutations (Ser(45) -> Gly, CYS278 -> Arg) in the lipoprotein lipase gene in a newborn Korean infant

저자: Lee, JangHoon; Ko, KwangMin; Lee, JungHwa; Lee, KwangChul; Son, ChangSung; Lee, JooWon; Ryu, SookWon

DOI: 10.1016/j.cca.2007.08.007

발행일: 2008-01

유형: Letter

저널명: Clinica Chimica Acta

권: 387

호: 1-2

페이지: 172 ~ 174

언어: ENG

출판사: Elsevier BV

발행국가: 네덜란드

분량: 3 페이지

ISSN: E 1873-3492
P 0009-8981