Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unreleated patients with familial hypercholesterolaemia in the UK.
5. mars 2020Linda King-Underwood, Vilmundur Gudnason, Steve Humphries, Mary Seed, Dilip Patel, Brian Knight and Anne Soutar. Clinical Genetics 1991;40:17-28.