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Editorial
. 2022 May 1;29(5):571-572.
doi: 10.5551/jat.ED184. Epub 2021 Aug 19.

Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?

Mika Hori  1   2
Affiliations
Editorial

Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?

Mika Hori. J Atheroscler Thromb. .
No abstract available

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References

    1. Benn M, Watts GF, Tybjærg-Hansen A and Nordestgaard BG: Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Euro Heart J, 2016; 37: 1384-1394 - PubMed
    1. Huang CC, Niu DM and Charng MJ: Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia. J Atheroscler Thromb, 2022; 29: 639-653 - PMC - PubMed
    1. Chiou K-R and Charng M-J: Genetic diagnosis of familial hypercholesterolemia in Han Chinese. J Clin Lipidol, 2016; 10: 490-496 - PubMed
    1. Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, Son C, Ogura M, Hosoda K, Miyamoto Y and Harada-Shiba M: Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis, 2019; 289: 101-108 - PubMed
    1. Han SM, Hwang B, Park TG, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo J, Hur SH, Jeong JO, Park S, Jang Y, Lee MG, Bang D, Lee JH and Lee SH: Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. PLoS One, 2015; 10: e0126706 - PMC - PubMed