https://www.selleckchem.com/pr....oducts/bay-2402234.h
Homozygous familial hypercholesterolaemia (HoFH) carries agrave prognosis but is often underdiagnosed and undertreated. Confirmation of molecular diagnosis helps in planning effective management and determining prognosis accurately. Aim of the study To determine the spectrum of mutations in the LDLR gene in acohort of children with aclinical diagnosis of HoFH. Genomic DNA was extracted from peripheral blood samples of 8 patients, who were children of either sex, aged under 16 years, and diagnosed clinically with HoFH using the Simon
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