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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic

Saadet Mercimek-Mahmutoglu1, Tracy Tucker, Brett Casey

  • 1Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada. smahmutoglu@cw.bc.ca

Molecular Genetics and Metabolism
|August 16, 2011
PubMed

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