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Development of a Rapid, Reliable Genetic Test for Pseudoxanthoma Elasticum

Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), a hereditary disorder that impacts the skin, eyes, and cardiovascular system. Currently, the diagnosis of PXE is based on physical findings and histological examination of a biopsy of affected skin. We have combined two simple,...

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Sonraí Bibleagrafaíochta
Main Authors: Shi, Yanggu, Terry, Sharon F., Terry, Patrick F., Bercovitch, Lionel G., Gerard, Gary F.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Investigative Pathology 2007
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867419/
https://ncbi.nlm.nih.gov/pubmed/17251343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2007.060093
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