Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations-Reference-Cited by-同舟云学术

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Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations

Published:2010-03 Issue:1 Volume:51 Page:95-106
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genet

Author:

Chmara M.,Wasąg B.,Żuk M.,Kubalska J.,Węgrzyn A.,Bednarska-Makaruk M.,Pronicka E.,Wehr H.,Defesche J. C.,Rynkiewicz A.,Limon J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/BF03195716.pdf

Reference28 articles.

1. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, et al. 2003. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34: 154–156.

2. Bednarska-Makaruk M, Bisko M, Pulawska MF, Hoffman-Zacharska D, Rodo M, Roszczynko M, et al. 2001. Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. Eur J Hum Genet 9: 836–842.

3. Boren J, Ekstrom U, Agren B, Nilsson-Ehle P, Innerarity TL, 2001. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 276: 9214–9218.

4. Brusgaard K, Jordan P, Hansen H, Hansen AB, Horder M, 2006. Molecular genetic analysis of 1053 Danish individuals with clinical signs offamilial hypercholesterolemia. Clin Genet 69: 277–283.

5. Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, et al. 2008. Comparison ofgenetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol 102: 1187–1193, 1193.e1.

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