A novel pathogenic nonsense triple-nucleotide mutation in the Low-Density Lipoprotein Receptor gene and its clinical correlation with Familial Hypercholesterolemia.

Akhter N., Sadeque A., Khalid A., Ali S.H.B., Ahmed N., Azam, M. andQamar R.  Genetic Testing and Molecular Biomarkers,15:601-606 (2011).