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Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches

✍ Scribed by Robert P. Finger; Peter Charbel Issa; Markus S. Ladewig; Christian Götting; Christina Szliska; Hendrik P.N. Scholl; Frank G. Holz


Book ID
116896633
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
838 KB
Volume
54
Category
Article
ISSN
0039-6257

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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