Detection of a known mutation M412T in the LDL receptor in a Chinese Thai FH family

• Main Authors: Klai Upsorn S. Pongrapeeporn, Manit Nuinoon, Pikun Thepsuriyanont, Bantita Kasemsuk, Patthamawadee Charoensuk, Ruechakorn Chantawee, Uchanee Wongmanee, Wilairat Nuchpramool
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/23074

Background: Familial hypercholesterolemia (FH) is an autosomal dominant hypercholesterolemia caused by mutation in the LDL receptor gene. M412T mutation of the LDL receptor gene was previously observed in a single female patient diagnosed as having primary hypercholesterolemia. However, the analysis...