A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family

Hongyan Shu; Jingwei Chi; Jing Li; Wei Zhang; Wenshan Lv; Jie Wang; Yujie Deng; Xu Hou; Yangang Wang

doi:10.1371/journal.pone.0189316

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Open Access

Peer-reviewed

Research Article

A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family

Hongyan Shu ,

Contributed equally to this work with: Hongyan Shu, Jingwei Chi

Roles Data curation, Formal analysis, Writing – original draft

Affiliations Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China, Department of Endocrinology, Linzi District People’s Hospital, Zibo, China
⨯
Jingwei Chi ,

Contributed equally to this work with: Hongyan Shu, Jingwei Chi

Roles Funding acquisition, Project administration

Affiliation Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China
⨯
Jing Li,

Roles Resources, Validation

Affiliation Department of Gerontology, Linzi District People’s Hospital, Zibo, China
⨯
Wei Zhang,

Roles Investigation, Methodology

Affiliation Department of Thoracic Surgery, Linzi District People’s Hospital, Zibo, China
⨯
Wenshan Lv,

Roles Data curation, Methodology

Affiliation Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China
⨯
Jie Wang,

Roles Software

Affiliation Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China
⨯
Yujie Deng,

Roles Methodology, Resources

Affiliation Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China
⨯
Xu Hou ,

Roles Writing – review & editing

* E-mail: jacob72hou@yahoo.com (XH); wangyangang0532@outlook.com (YW)

Affiliation Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China
⨯
Yangang Wang

Roles Project administration, Writing – review & editing

* E-mail: jacob72hou@yahoo.com (XH); wangyangang0532@outlook.com (YW)

Affiliation Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China

http://orcid.org/0000-0001-8646-1403

⨯

A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family

Hongyan Shu,
Jingwei Chi,
Jing Li,
Wei Zhang,
Wenshan Lv,
Jie Wang,
Yujie Deng,
Xu Hou,
Yangang Wang

Published: December 11, 2017
https://doi.org/10.1371/journal.pone.0189316

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Familial hypercholesterolemia
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Mutation detection
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Cell membranes
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Endoplasmic reticulum
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Hypercholesterolemia
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