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

Author

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

Subjects
Pseudoxanthoma elasticum -- Genetic aspects, Pseudoxanthoma elasticum -- Research, Genotype -- Analysis, Gene mutations -- Research, Gene mutations -- Physiological aspects, Health
Published
2007

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