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A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease

  • Published:2013-01 Issue:1 Volume:7 Page:82-87
  • ISSN:1933-2874
  • Container-title:Journal of Clinical Lipidology
  • language:en
  • Short-container-title:Journal of Clinical Lipidology

Author:

Negi Smita I.,Brautbar Ariel,Virani Salim S.,Anand Aashish,Polisecki Eliana,Asztalos Bela F.,Ballantyne Christie M.,Schaefer Ernst J.,Jones Peter H.

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Cited by 22 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease;Medical Clinics of North America;2022-03

2. Tangier disease in family with the phenotype of familial hypercholesterolemia;Vnitřní lékařství;2020-11-03

3. Genetic Disorders of Lipoprotein Metabolism: Diagnosis and Management;Clinical Cardiogenetics;2020

4. A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family;Biochemical and Biophysical Research Communications;2019-01

5. Human Nervous System Disorders;Examining the Causal Relationship Between Genes, Epigenetics, and Human Health;2019
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