Liquid chromatography has helped scientists analyse how the low-density lipoprotein
receptor (LDLR) gene affects patients with familial hypercholesterolemia.
Writing in BioMed Central (BMC) Medical Genetics, the scientists from Universiti Sains Malaysi studied unrelated patients in northern regions of Malaysia.
Of the 157 people tested, liquid chromatography helped the researchers to discover defects in the LDLR gene.
Among 76 per cent of the subjects, 29 gene variations were found. Of these, eight were new discoveries.
The scientists also found that people with pathogenic mutations tend to have increased cholesterol, be younger, have "higher incidences of cardiovascular disease", as well as "a family history of hyperlipidemia".
Providing a range of medical journals, BMC has pioneered open access publishing, aiming to ensure that research findings are published promptly - and claims that this approach could be a more sustainable way to build the future of scientific publishing.
Offering a selection of papers across various scientific disciplines, BMC looks at medicine, biology, genome research and more specific topics within these areas.
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