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A Genome-wide association study (GWAS) identified a novel locus on chromosome 1p13 harboring SORT1 , the gene encoding sortilin, that is associated with reduced LDL cholesterol (150)
Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A : A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
Approximately 10-13% of the patients in the entire population probably have some or other disease severity
More Comparison between the model simulations and the experiment with palmitoyl CoA as substrate
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