Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene-Reference-Cited by-同舟云学术

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene

Published:2001-11 Issue:11 Volume:9 Page:836-842
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bednarska-Makaruk Małgorzata,Bisko Mariola,Puławska Maria F,Hoffman-Zacharska Dorota,Rodo Maria,Roszczynko Marta,Solik-Tomassi Alicja,Broda Grażyna,Polakowska Maria,Pytlak Aleksandra,Wehr Hanna

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5200720.pdf

Reference28 articles.

1. Innerarity TL, Weisgraber KH, Arnold KS et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding Proc Natl Acad Sci USA 1987 84: 6919–6923

2. Tybjaerg-Hansen A, Gallagher J, Vincent J et al. Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases Atherosclerosis 1990 80: 235–242

3. Defesche JC, Pricker CL, Hayden MR, van der Ende BE, Kastelein JJP . Familial defective apolipoprotein B-100 is clinically undistinguishable from familial hypercholesterolemia Arch Int Med 1993 153: 2349–2356

4. Gallagher JJ, Myant NB . Variable expression of the mutation in familial defective apolipoprotein B-100 Arterioscler Thromb 1993 13: 973–976

5. Miserez AR, Keller U . Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia Arterioscler Thromb Vasc Biol 1995 15: 1719–1729

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