研究论文

Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients

Mika Hori, Naotaka Ohta, Atsushi Takahashi, Hiroaki Masuda, Rieko Isoda, Suguru Yamamoto, Cheol Son, Masatsune Ogura 等 11 位

National Cerebral and Cardiovascular Center

来源Atherosclerosis

年份2019

DOI10.1016/j.atherosclerosis.2019.08.004

原文https://doi.org/10.1016/j.atherosclerosis.2019.08.004

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逐年被引趋势

19100

1921

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被引次数 · OpenAlex

7.10

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学术脉络

学科主题

生物医学

Lipoproteins and Cardiovascular Health

Antiplatelet Therapy and Cardiovascular Diseases · Diabetes, Cardiovascular Risks, and Lipoproteins

参考文献 36

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Masao Nagasaki, Jun Yasuda, Fumiki Katsuoka · Nature Communications · 2015

被引 431

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.

T L Innerarity, Karl H. Weisgraber, K S Arnold · Proceedings of the National Academy of Sciences · 1987

被引 484

A point mutation of low‐density‐lipoprotein receptor causing rapid degradation of the receptor

Yasuko Miyake, Shoji Tajima, Tohru Funahashi · European Journal of Biochemistry · 1992

被引 18

此处列出前 3 条

引用本文 55

Homozygous Familial Hypercholesterolemia

Atsushi Nohara, Hayato Tada, Masatsune Ogura · Journal of Atherosclerosis and Thrombosis · 2021

被引 109

Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan

Keiji Matsunaga, Asako Mizobuchi, Hai Ying Fu · Journal of Atherosclerosis and Thrombosis · 2021

被引 45

Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene

Hayato Tada, Mika Hori, Kota Matsuki · Journal of Atherosclerosis and Thrombosis · 2021

被引 38

按被引量排序，此处列出前 3 条