Associated Papers
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.
Fan LL et al.
Applied Biochemistry and Biotechnology, 2015
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.
Defesche JC et al.
Clinical Genetics, 2008
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