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SOLVED: Mutations in the low-density lipoprotein receptor (LDLR) gene are a primary cause of familial hypercholesterolemia. One such mutation is a SNP in exon 12 of the L D L R . In premenopausal women, but not in men or postmenopausal women, this SNP leads to skipping of exon 12 and production of a truncated nonfunctional protein. It is hypothesized that this SNP compromises a splice enhancer [Zhu et al. (2007). Hum Mol Genet. 16: 1765-1772 ]. What are some possible ways in which this SNP can l

SOLVED: Mutations in the low-density lipoprotein receptor (LDL…

SOLVED:Mutations in the low-density lipoprotein receptor (LDLR) gene are a primary cause of familial hypercholesterolemia. One such mutation is a SNP in exon 12 of the L D L R . In premenopausal women, but not in men or postmenopausal women, this SNP leads to skipping of exon 12 and production of a truncated nonfunctional protein. It is hypothesized that this SNP compromises a splice enhancer [Zhu et al. (2007). Hum Mol Genet. 16: 1765-1772 ]. What are some possible ways in which this SNP can le

SOLVED:Mutations in the low-density lipoprotein receptor (LDL…

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