A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration - Top-Institutions - MDSpire

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration

  • By

  • Shuran Zhang

  • Wenming Huang

  • Haoqiang Chen

  • Ninghui Mu

  • Le Chang

  • Baosheng Zhu

  • Jinman Zhang

  • Ying Chan

  • June 9, 2026

  • 0 min

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Top Institutions in Cardiology

Brief introduction explaining scope and methodology.

  • #1

    The First People's Hospital of Yunnan Province
    The First People's Hospital of Yunnan Province

    Kunming, Yunnan

    Key Differentiators

    • Medical Genetics

  • #2

    Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University
    Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University

    Shanghai, Shanghai

    Key Differentiators

    • Pathological Examination

  • #3

    Kunming Children's Hospital
    Kunming Children's Hospital

    Kunming, Yunnan

    Key Differentiators

    • Pediatric Care

  • #4

    Beijing Friendship Hospital, Capital Medical University
    Beijing Friendship Hospital, Capital Medical University

    Beijing, Beijing

    Key Differentiators

    • Cardiology

  • #5

    UK Biobank
    UK Biobank

    Cambridge, Cambridgeshire

    Key Differentiators

    • Genetic Research

Original Source(s)

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration

  • by Shuran Zhang, Wenming Huang, Haoqiang Chen, Ninghui Mu, Le Chang, Baosheng Zhu, Jinman Zhang, Ying Chan

  • June 9, 2026

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