Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B-Reference-Cited by-同舟云学术

Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B

Published:2008-06-28 Issue:6 Volume:53 Page:433-439
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Nissen Henrik,Hansen Annebirthe B.,Guldberg Per,Hansen Torben S.,Petersen Niels E.,Harder Mogens

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb02591.x/fullpdf

Reference29 articles.

1. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolemia;Myant;Atherosclerosis,1993

2. Association between a specific apolipoprotein B polymorphism and familial defective apolipoprotein B-100;Soria;Proc Natl Acad Sci USA,1989

3. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity;Pullinger;J Clin Invest,1995

4. Independent mutations at the codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia;Gaffney;Arterioscler Thromb Vase Biol,1995

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2. Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela;Endocrinología, Diabetes y Nutrición (English ed.);2017-10

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5. Lexikalischer Teil;Lexikon der Syndrome und Fehlbildungen;2003