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
van Kuilenburg, André B.P., Tarailo-Graovac, Maja, Meijer, Judith, Drogemoller, Britt, Vockley, Jerry, Maurer, Dirk, Dobritzsch, Doreen, Ross, Colin J., Wasserman, Wyeth, Meinsma, Rutger, Zoetekouw, LLanguage:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23538
Date:
April, 2018
File:
PDF, 988 KB
english, 2018