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

Authors :: 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
Bercovitch, Lionel G.
Source :: Journal of Medical Genetics. Oct, 2007, Vol. 44 Issue 10, p621, 8 p.
Publication Year :: 2007

Subjects :: Pseudoxanthoma elasticum -- Genetic aspects
Pseudoxanthoma elasticum -- Research
Genotype -- Analysis
Gene mutations -- Research
Gene mutations -- Physiological aspects
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