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The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 25 - 39
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2013, Volume 110, Issue 50, pp. 20206 - 20211
Journal Article
Expert Opinion on Medical Diagnostics, ISSN 1753-0059, 01/2008, Volume 2, Issue 1, pp. 63 - 79
Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular... 
genetic mutations | ABC transporters | heritable skin diseases | mutation detection | pseudoxanthoma elasticum | Heritable skin diseases | Pseudoxanthoma elasticum | Mutation detection | Genetic mutations
Journal Article
Journal of Molecular Medicine, ISSN 0946-2716, 10/2013, Volume 91, Issue 10, pp. 1177 - 1184
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2007, Volume 44, Issue 10, pp. 621 - 628
Journal Article