Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014-Reference-Cited by-同舟云学术

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014

Published:2014-10-22 Issue:6 Volume:23 Page:889-889
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Burnett John R,Bell Damon A,Hooper Amanda J,Hegele Robert A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014225.pdf

Reference13 articles.

1. Kane JP, Havel RJ : Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins; in: Scriver CR, Beaudet AL, Sly WS (eds): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 20018th ednpp 2717–2752.

2. Hooper AJ, Burnett JR : Update on primary hypobetalipoproteinemia. Curr Atheroscler Rep 2014; 16: 423.

3. Welty FK : Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol 2014; 25: 161–168.

4. APOB Leiden Open Variation Database. https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=APOB .

5. Burnett JR, Zhong S, Jiang ZG et al. Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia. J Biol Chem 2007; 282: 24270–24283.

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