Article
Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.
Molecular biology reports - 1 Jul 2012
Ahmed Waqas, Ajmal Muhammad, Sadeque Ahmed, Whittall Roslyn A, Rafiq Sobia, Putt Wendy, Khawaja Athar, Imtiaz Fauzia, Ahmed Nuzhat, Azam Maleeha, Humphries Steve E, Qamar Raheel
Abstract excerpt
The majority of patients with the autosomal dominant disorder familial hypercholesterolemia (FH) carry novel mutations in the low density lipoprotein receptor (LDLR) that is involved in cholesterol regulation. In different populations the spectrum of mutations identified is quite different and to date there have been only a few reports of the spectrum of mutations in FH patients from Pakistan. In order to...
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