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Updated: Mar 1, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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在家族性高胆固醇血症患者中,与复合LDLR基因突变相关的可变表型:病例序列和临床影响

Noor Alicezah Mohd Kasim1,2, Yung-An Chua1,3, Siti Hamimah Sheikh Abdul Kadir1,3

  • 1Cardiovascular Advancement and Research Excellence Institute (CARE Institute), Universiti Teknologi MARA, Selangor, Malaysia.

Medicine
|February 27, 2026
PubMed
概括

同胞性家族性高胆固醇血症 (HoFH) 可能由于化合物LDL受体 (LDLR) 突变而表现出不同的症状. 在第18个外显子中的新型LDLR变异可能导致HoFH患者的较轻的高胆固醇血症和不典型的临床特征.

关键词:
复合物是异构的复合物同卵性家族性高胆固醇血清症病原性变异是一种病原性变异.

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