Search: (WFRF:(Huerta Jose M.)) srt2:(2010-2014) >
Identification of t...
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria
-
van Kuilenburg, A B P (author)
-
Meijer, J (author)
-
- Dobritzsch, Doreen, 1972- (author)
- Karolinska Institutet
-
show more...
-
- Lohkamp, B (author)
- Karolinska Institutet
-
Ruitenbeek, W (author)
-
Roelofsen, J (author)
-
Abeling, N G G M (author)
-
Duran, M (author)
-
Buzing, C (author)
-
show less...
-
(creator_code:org_t)
- Informa UK Limited, 2008
- 2008
- English.
-
In: Nucleosides, Nucleotides & Nucleic Acids. - : Informa UK Limited. - 1525-7770 .- 1532-2335. ; 27:6-7, s. 809-815
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- A patient with hematuria was shown to have thymine-uraciluria. The dihydropyrimidine dehydrogenase (DPD) activity in peripheral blood mononuclear cells was 0.16 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h. Analysis of DPYD showed that the patient was compound heterozygous for the novel mutations 237C > A (C79X) in exon 4 and 704G > A (R235Q) in exon 7. The nonsense mutation (C79X) leads to premature termination of translation and thus to a non-functional protein. Analysis of the crystal structure of pig DPD suggested that the R235Q mutation might interfere with the binding of FAD and the electron flow between the NADPH and the pyrimidine substrate site of DPD.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
van Kuilenburg, ...
-
Meijer, J
-
Dobritzsch, Dore ...
-
Lohkamp, B
-
Ruitenbeek, W
-
Roelofsen, J
-
show more...
-
Abeling, N G G M
-
Duran, M
-
Buzing, C
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
Nucleosides, Nuc ...
- By the university
-
Uppsala University
-
Karolinska Institutet