Article
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Nature genetics - 1 Jun 2000
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope F M, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd C D
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by calcification of elastic fibres in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal haemorrhages leading to macular degeneration. PXE is usually found as a sporadic disorder, but examples of both autosomal recessive and autosomal dominant forms of PXE...
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