家族性高膽固醇血癥亞型--隱性遺傳性高膽固醇血癥研究進(jìn)展

1、 家族性高膽固醇血癥亞型-隱性遺傳性高膽固醇血癥研究進(jìn)展作者:馬斐斐, 王綠婭, MA Fei-fei, WANG Lu-ya作者單位:馬斐斐,MA Fei-fei(南華大學(xué)基礎(chǔ)醫(yī)學(xué)院心血管病研究所,湖南,衡陽,421001, 王綠婭,WANG Lu-ya(首都醫(yī)科大學(xué)附屬安貞醫(yī)院,北京,100029刊名:國際病理科學(xué)與臨床雜志英文刊名:INTERNATIONAL JOURNAL OF PATHOLOGY AND CLINICAL MEDICINE年,卷(期:2006,26(2參考文獻(xiàn)(16條1.王綠婭家族性高膽固醇血癥 20042.Canizales-Quinteros S A novel

2、ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia外文期刊 2005(1-23.Hubacek JA;Hyatt T ARH missense polymorphisms and plasma cholesterol levels外文期刊 2004(094.Cohen JC;Kimmel M;Polanski A Molecular mechanisms of autosomal recessive hypercholesterolemia外文期刊 2003(02

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4、hel J LDL-receptor mutations in Europe外文期刊 2004(068.王綠婭;藺潔;劉舒家族性高膽固醇血癥樣表型遺傳異質(zhì)性的分子基礎(chǔ)期刊論文-遺傳學(xué)報(bào) 2005(079.Lind S;Olsson AG;Eriksson M Autosomal recessive hypercholesterolaemia:normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment 2004(0510.Arca M;Zuliani G;Wilund K Au

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6、A;Marutsuka K Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo外文期刊 2004(0913.Mishra S;Traub L The autosomal recessive hypercholesterolemia (ARH protein interfaces directly with the clathrin-coat machinery外文期刊 2002(2514.Jones C;Hammer R;Cohen J Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia外文期刊 2003(3115.Naoumova RP;Thompson GR;Soutar AK Current management of severe homozygous hypercholesterolaemias 外文期刊 2004(0416.Wilund K;Campagna F;Ar