Genotypephenotype Correlation

To date, over 100 loss-of-function and missense mutations in ABCC6 have been reported. Currently, it is unclear how consequences of mutations at the level of the

Fig. 1 A. Pseudodominant pedigree with clinically affected individuals (blackened) and presumed obligate heterozygous carriers with only histopathological evidence of PXE (shaded). Letters A and B designate the assumed mutations and their distribution prior to molecular analysis. B. Mutation analysis in the same pedigree reveals a total of three different mutations on three different alleles (colored symbols). Both affected and minimally affected obligate heterozygous carriers are compound heterozygous for mutations in ABCC6, WT: wild type. (View this art in color at www.dekker.com.)

Fig. 1 A. Pseudodominant pedigree with clinically affected individuals (blackened) and presumed obligate heterozygous carriers with only histopathological evidence of PXE (shaded). Letters A and B designate the assumed mutations and their distribution prior to molecular analysis. B. Mutation analysis in the same pedigree reveals a total of three different mutations on three different alleles (colored symbols). Both affected and minimally affected obligate heterozygous carriers are compound heterozygous for mutations in ABCC6, WT: wild type. (View this art in color at www.dekker.com.)

encoded protein, MRP6, determine a particular phenotype ranging from mild to severely debilitating disease with a broad spectrum of cardiovascular involvement. The high prevalence of cardiac abnormalities in otherwise unaffected members of families or individuals with PXE also suggests the possibility of a dominant effect of specific mutations or polymorphisms on the cardiovascular system.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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