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Compound heterozygosity of novel missense mutations (Ser<SUP>45</SUP> → Gly, CYS<SUP>278</SUP> → Arg) in the lipoprotein lipase gene in a newborn Korean infant
- Lee, JangHoon;
- Ko, KwangMin;
- Lee, JungHwa;
- Lee, KwangChul;
- Son, ChangSung;
- ... Ryu, SookWon;
- 외 1명
Citations
WEB OF SCIENCE
2Citations
SCOPUS
2키워드
N-LINKED GLYCOSYLATION; LPL GENE; DEFICIENCY; HYPERTRIGLYCERIDEMIA; EXPRESSION; SECRETION
- 제목
- Compound heterozygosity of novel missense mutations (Ser<SUP>45</SUP> → Gly, CYS<SUP>278</SUP> → 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
- 발행일
- 2008-01
- 유형
- Letter
- 권
- 387
- 호
- 1-2
- 페이지
- 172 ~ 174