换一批
换一批Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease.
第一作者：
Jeffrey,Rhyne
第一单位：
Department of Medicine, Cardiology Division, University Maryland Medical Center and Baltimore Veterans Affairs Medical Center, 22 South Greene Street, Baltimore, MD 21201, USA. jrhyn001@umaryland.edu
作者：
主题词
ATP结合匣式转运子(ATP-Binding Cassette Transporters);成年人(Adult);选择性剪接(Alternative Splicing);胆固醇, HDL(Cholesterol, HDL);冠心病(Coronary Disease);DNA突变分析(DNA Mutational Analysis);DNA引物(DNA Primers);女(雌)性(Female);人类(Humans);低α脂蛋白血症(Hypoalphalipoproteinemias);男(雄)性(Male);突变(Mutation);系谱(Pedigree);聚合酶链反应(Polymerase Chain Reaction);多态现象, 单链构象(Polymorphism, Single-Stranded Conformational)
DOI
10.1186/1471-2350-10-1
PMID
19133158
发布时间
2022-03-30
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