Article
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Journal of medical genetics - 1 Oct 2007
Pfendner Ellen G, Vanakker Olivier M, Terry Sharon F, Vourthis Sophia, McAndrew Patricia E, McClain Monica R, Fratta Sarah, Marais Anna-Susan, Hariri Susan, Coucke Paul J, Ramsay Michele, Viljoen Denis, Terry Patrick F, De Paepe Anne, Uitto Jouni, Bercovitch Lionel G
Abstract excerpt
BACKGROUND: Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system, characterised by dystrophic mineralization of connective tissues. It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6). OBJECTIVE: To investigate...
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