The two sides of a coin: Pathogenicity and potential therapeutic of LDLRQ722*
Abstract Familial hypercholesterolemia (FH) is a severe inherited lipid metabolism dysfunction, characterized by high low‐density lipoprotein (LDL) cholesterol levels, mostly due to mutations in the LDL receptor (LDLR) gene. Whole exome sequencing was performed on a consanguineous Chinese FH family...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-04-01
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| Series: | Clinical and Translational Discovery |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ctd2.48 |