Molecular genetics of pseudoxanthoma ela
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Sara Miksch; Amanda Lumsden; Ulf P. Guenther; Dorothee Foernzler; Stéphanie Chri
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Article
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2005
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John Wiley and Sons
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English
⚖ 780 KB
Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a muta