摘要
以PCR SSCP和DNA测序确定 1例 17岁女孩的脂蛋白脂酶 (LPL)基因为杂合子突变(Pro2 0 7Leu) 。
A heterozygous mutation of lipoprotein lipase (LPL) (Pro207Leu) was identified in a 17-year-old girl with hyperchylomicronemia by PCR-SSCP and DNA sequencing. This mutation reduces the LPL catalytic activity and results in hyperchylomicronemia.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2004年第3期241-242,共2页
Chinese Journal of Endocrinology and Metabolism
基金
天津市自然科学基金资助课题 (0 3360 731 1 )
