Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Gent, Belgium. In J Invest Dermatol, Apr 2015
The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and gamma-glutamyl carboxylase (GGCX) can cause resembling phenotypes.
Optimal dosing of warfarin and other coumarin anticoagulants: the role of genetic polymorphisms.
Newcastle upon Tyne, United Kingdom. In Arch Toxicol, 2013
Additional less common polymorphisms in these genes together with polymorphisms in other genes relevant to blood coagulation such as the cytochrome P450 CYP4F2, gamma-glutamyl carboxylase, calumenin and cytochrome P450 oxidoreductase may also be significant predictors of dose, especially in ethnic groups such as Africans where there have been fewer genetic studies compared with European populations.