Electronic ISSN 2287-0237

VOLUME

RESULT OF GENETIC ANALYSIS IN FH CASE

SEPTEMBER 2018 - VOL.14 | LETTER TO THE EDITOR
  1. Veerakul G, Shapiro M, Fazio S et al. Aborted Sudden Cardiac Death in Young Man with Familial Hypercholesterolemia: A CaseReport and Review of The Literature. BKK Med J 2018; 14(1):57-62.
  2. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familialhypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
  3. Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004;173:55-68.
  4. Shapiro M, Fazio S. Familial Hypercholesterolemia: Use of Registries, Biobanks, and Cohort Studies To Improve its Diagnosisand Management in Non-Western Populations. Bangkok Med J 2018; 14(1):63-8.
  5. Garcia CK, Wilund K, Arca M et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptoradaptor protein. Science 2001;292(5520):1394-8.
  6. Austin MA, Hutter CM, Zimmern RL, et al. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGEprevalence review. Am J Epidemiol 2004;160:407-20.
  7. Mak YT, Pang CP, Tomlinson B et al. Mutations in the Low-Density Lipoprotein Receptor Gene in Chinese Familial HypercholesterolemiaPatients. Arterioscler Thromb Vasc Biol 1998;18: 1600-5.
  8. Livy A, Lye SH. Familial hypercholesterolemia in Asia: A Review. OMIC Res 2011;1:22-31.
  9. Jeenduang N, Ruangpracha A, Promptmas C, et al. Two novel D151Y and M391T LDLR mutations causing LDLR transport defectsin Thai patients with familial hypercholes- terolemia. Clin Chim Acta 2010;411:1656-61.
  10. The UniProt Consortium. UniProt: the universal protein knowledge base. Nucleic Acids Res. 2017;45:D158-D169.
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