Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 7(39), p. 947-953
DOI: 10.1002/humu.23538
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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
Journal article published in 2018 by
van Kuilenburg Abp,
André B. P. van Kuilenburg 
,
Maja Tarailo-Graovac,
Clara D. M. van Karnebeek,
Judith Meijer,
Britt Drogemoller ,
Jerry Vockley,
Dirk Maurer,
Doreen Dobritzsch,
Ross Cj,
Colin J. Ross,
Wyeth Wasserman,
Rutger Meinsma,
Lida Zoetekouw,
van Karnebeek Cdm
,
Maja Tarailo-Graovac,
Clara D. M. van Karnebeek,
Judith Meijer,
Britt Drogemoller ,
Jerry Vockley,
Dirk Maurer,
Doreen Dobritzsch,
Ross Cj,
Colin J. Ross,
Wyeth Wasserman,
Rutger Meinsma,
Lida Zoetekouw,
van Karnebeek Cdm
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