Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12

André van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, Britt Drögemöller, Jerry Vockley, Dirk Maurer, Doreen Dobritzsch, Colin Ross, Wyeth Wasserman, Rutger Meinsma, Lida Zoetekouw, Clara van Karnebeek

January 2018

Type

Journal article

Publication

Human Mutation