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1دورية أكاديمية
المؤلفون: Haochang Hu, Ruoyu Chen, Yingchu Hu, Jian Wang, Shaoyi Lin, Xiaomin Chen
المصدر: Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Familial hypercholesterolemia, Genetic diagnosis, Whole-exome sequencing, Heterogeneous genotype, Homogeneous genotype, PCSK9 inhibitor, Nutritional diseases. Deficiency diseases, RC620-627
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1476-511XTest
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2دورية أكاديميةAdditional file 2 of The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia
المؤلفون: Haochang Hu (11423194), Ruoyu Chen (4114402), Yingchu Hu (11423197), Jian Wang (5901), Shaoyi Lin (11423200), Xiaomin Chen (11423203)
مصطلحات موضوعية: Biochemistry, Medicine, Immunology, Cancer, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Familial hypercholesterolemia, Genetic diagnosis, Whole-exome sequencing, Heterogeneous genotype, Homogeneous genotype, PCSK9 inhibitor
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المؤلفون: Jian Wang, Ruoyu Chen, Shaoyi Lin, Xiaomin Chen, Haochang Hu, Yingchu Hu
المصدر: Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-10 (2021)
Lipids in Health and Diseaseمصطلحات موضوعية: Male, Proband, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Familial hypercholesterolemia, Endocrinology, Treatment Failure, Nutritional diseases. Deficiency diseases, Exome sequencing, Hypolipidemic Agents, Sanger sequencing, Homogeneous genotype, PCSK9 Inhibitors, Middle Aged, Pedigree, Heterogeneous genotype, Genetic diagnosis, Whole-exome sequencing, symbols, Kexin, Female, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Adult, medicine.medical_specialty, RC620-627, Adolescent, PCSK9 inhibitor, Hyperlipoproteinemia Type II, symbols.namesake, Internal medicine, Exome Sequencing, medicine, Humans, Point Mutation, Family, Triglycerides, business.industry, Research, PCSK9, Cholesterol, HDL, Biochemistry (medical), nutritional and metabolic diseases, Cholesterol, LDL, medicine.disease, Proprotein convertase, HEK293 Cells, Gene Expression Regulation, Receptors, LDL, LDL receptor, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81841595867b5a0c6dd5cab2c6191ec7Test
https://doaj.org/article/e67901193a1d4e9ba13396b673874a80Test -
4صورةAdditional file 1 of The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia
المؤلفون: Haochang Hu (11423194), Ruoyu Chen (4114402), Yingchu Hu (11423197), Jian Wang (5901), Shaoyi Lin (11423200), Xiaomin Chen (11423203)
مصطلحات موضوعية: Biochemistry, Medicine, Immunology, Cancer, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Familial hypercholesterolemia, Genetic diagnosis, Whole-exome sequencing, Heterogeneous genotype, Homogeneous genotype, PCSK9 inhibitor