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Update on low density lipoprotein receptor mutations

Soutar, Anne K.

Current Opinion in Lipidology: April 1998 - Volume 9 - Issue 2 - p 141-147
Genetics and molecular biology
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Recent research has focused on the rapid detection of new LDL receptor gene variants and large scale screening for known mutations. Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the potential value of detecting mutation carriers for clinical practice. There is also evidence that some patients with clinical familial hypercholesterolaemia do not have detectable defects in the LDL receptor or apolipoprotein B. Curr Opin Lipidol 9:141–147. © 1998 Rapid Science Ltd

Correspondence to Anne K. Soutar, MRC Lipoprotein Team, Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK Tel: 0181 383 262; fax: 0181 383 2077; e‐mail: asoutar@rpms.ac.uk

© Lippincott-Raven Publishers.