Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

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Published in J Med Genet on July 06, 2007

Authors

Ellen G Pfendner1, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, Lionel G Bercovitch

Author Affiliations

1: GeneDx Inc., 207 Perry Parkway, Gaithersburg, Maryland 20877, USA. ellen@genedx.com

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