家族性高胆固醇血症亚型--隐性遗传性高胆固醇血症研究进展

1、 家族性高胆固醇血症亚型-隐性遗传性高胆固醇血症研究进展作者:马斐斐, 王绿娅, MA Fei-fei, WANG Lu-ya作者单位:马斐斐,MA Fei-fei(南华大学基础医学院心血管病研究所,湖南,衡阳,421001, 王绿娅,WANG Lu-ya(首都医科大学附属安贞医院,北京,100029刊名:国际病理科学与临床杂志英文刊名:INTERNATIONAL JOURNAL OF PATHOLOGY AND CLINICAL MEDICINE年,卷(期:2006,26(2参考文献(16条1.王绿娅家族性高胆固醇血症 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

3、5.Harada-Shiba M;Takagi A;Miyamoto Y Clinical features and genetic analysis of autosomal recessive hypercholesterolemia外文期刊 2003(066.Soutar AK;Naoumova RP;Traub LM Genetics,clinical phenotype,and molecular cell biology of autosomal recessive hypercholesterolemia 2003(117.Dedoussis GV;Schmidt H;Gensc

4、hel J LDL-receptor mutations in Europe外文期刊 2004(068.王绿娅;蔺洁;刘舒家族性高胆固醇血症样表型遗传异质性的分子基础期刊论文-遗传学报 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

5、tosomal recessive hypercholesterolaemia in Sardinia,Italy,and mutations in ARH:a clinical and molecular genetic analysis 2002(930911.Garcia C;Wilund K;Arca M Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein外文期刊 2001(552012.Harada-Shiba M;Takagi

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