Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing-Reference-Cited by-同舟云学术

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Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing

Published:2022-03 Issue:2 Volume:16 Page:167-172
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Hori Mika^ORCID,Takahashi Atsushi^ORCID,Hosoda Kiminori,Harada-Shiba Mariko

Funder

Takeda Science Foundation

Masanori Kawano Memorial Public Interest Foundation for Promotion of Pediatrics

Japan Agency for Medical Research and Development

Japanese Circulation Society

Hoansha Foundation

Kanae Foundation for the Promotion of Medical Science

National Cerebral and Cardiovascular Center

Ministry of Health, Labour and Welfare

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

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

Reference18 articles.

1. Familial hypercholesterolemia;Goldstein,2001

2. Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man;Brown;Science,1974

3. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding;Innerarity;Proc Natl Acad Sci U S A,1987

4. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat Genet,2003

5. The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln);Hori;J Clin Lipidol,2020

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