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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency

André B P van Kuilenburg1, Judith Meijer, Doreen Dobritzsch

  • 1Academic Medical Center, University of Amsterdam, Emma Children's Hospital, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl

Molecular Genetics and Metabolism
|March 27, 2007
PubMed

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