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of 21
pro vyhledávání: '"R G H, Cotton"'
Mutation detection is increasingly undertaken in a wide spectrum of research areas: in medicine it is fundamental in isolating disease genes and diagnbosis, and is especially important in cancer research; in biology, commercially important genes can
Publikováno v:
Clinical Genetics. 29:491-495
A human phenylalanine hydroxylase cDNA clone was isolated from a human liver cDNA library. The size of the cDNA insert is approximately 2.4 kb and appears to be a near full length copy of a phenylalanine hydroxylase mRN A. This cDN A was used to prob
Autor:
R. G. H. Cotton
Publikováno v:
Internal Medicine Journal. 32:285-288
Publikováno v:
Unconjugated pterins and related biogenic amines: Proceedings of the First International Workshop, Flims, Switzerland, February 28-March 7, 1987
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98c38a33234a16f98030246e4a1a13a5
https://doi.org/10.1515/9783111503844.339
https://doi.org/10.1515/9783111503844.339
Autor:
Mauno Vihinen, Pierre Hainaut, Magali Olivier, J. K. Dunnick, J.T. den Dunnen, R. G. H. Cotton, Audrey Petitjean, Jon W. Teague, S. Forbes, Anita Langerød, J. M. Wilkinson
Publikováno v:
Human mutation. 30(3)
There are currently less than 40 locus-specific databases (LSDBs) and one large general database that curate data on somatic mutations in human cancer genes. These databases have different scope and use different annotation standards and database sys
Autor:
R A, George, T D, Smith, S, Callaghan, L, Hardman, C, Pierides, O, Horaitis, M A, Wouters, R G H, Cotton
Publikováno v:
Journal of medical genetics. 45(5)
Autor:
R G H, Cotton, O, Horaitis
Publikováno v:
The pharmacogenomics journal. 2(1)
Publikováno v:
Scopus-Elsevier
In our analysis of mutations causing DHPR deficiency we identified a patient in whom there was an aberrant transcription pattern detected by PCR of DHPR cDNA. However, unlike the pattern observed as a result of most splicing mutations, there is some
Autor:
R. G. H. Cotton, Haig H. Kazazian
Publikováno v:
Human Mutation. 1:1-2
Autor:
R. G. H. Cotton, Haig H. Kazazian
Publikováno v:
Human Mutation. 8:i-i