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Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes

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Description scientific article
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author: Gulsen Akoglu  Qiaoli Li  Jouni Uitto 

Publication date May 15, 2013
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007358

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