LDLR

Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives
Ricardo Rodriguez-Calvo, Luis Masana

Journal of Medical Genetics Nov 2019, 56 (11) 711-717; DOI: 10.1136/jmedgenet-2018-105713
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update
Sarah Leigh, Marta Futema, Ros Whittall, Alison Taylor-Beadling, Maggie Williams, Johan T den Dunnen, Steve E Humphries

Journal of Medical Genetics Apr 2017, 54 (4) 217-223; DOI: 10.1136/jmedgenet-2016-104054

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