Results 321 to 330 of about 6,585,062 (339)

Point Mutations in Retinoblastoma

New England Journal of Medicine, 1990
Robert A. Phillips, James M. Dunn, Brenda L. Gallie, Paul A. Hamel   +3 more
openaire   +2 more sources

Mutation-prone points in thrombin receptor

Journal of Thrombosis and Thrombolysis, 2007
Thrombin receptor (TR) is a G-protein-coupled receptor that transmits cellular responses to coagulant proteases in a variety of cell types in the vasculature and other tissues. Mutation within TR can be seen. Presently, the prediction of protein nanostructure and function is a great challenge in the proteomics and structural genomics era.To identify ...
openaire   +3 more sources

The Y-chromosome point mutation rate in humans

Nature Genetics, 2015
A. Helgason, Axel W Einarsson, Valdís B. Guðmundsdóttir, Ásgeir Sigurðsson, Ellen D. Gunnarsdóttir, Anuradha Jagadeesan, S. S. Ebenesersdóttir, A. Kong, K. Stefánsson   +8 more
semanticscholar   +1 more source

Generalized lymphoproliferative disease in mice, caused by a point mutation in the fas ligand

Cell, 1994
Tomohiro Takahashi, Masato Tanaka, C. I. Brannan, N. Jenkins, N. Copeland, T. Suda, S. Nagata   +6 more
semanticscholar   +1 more source

Repeat-Induced Point Mutation: A Fungal-Specific, Endogenous Mutagenesis Process

, 2015
James K. Hane, Angela H Williams, Adam P Taranto, P. Solomon, R. Oliver   +4 more
semanticscholar   +1 more source

Point of care mutation detection

Human Mutation, 2010
openaire   +2 more sources

A point mutation is responsible for the acquisition of transforming properties by the T24 human bladder carcinoma oncogene

Nature, 1982
E. Reddy, R. K. Reynolds, E. Santos, M. Barbacid   +3 more
semanticscholar   +1 more source

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Nature, 1991
A. Goate, M. Chartier-Harlin, M. Mullan, Jeremy S. Brown, F. Crawford, L. Fidani, L. Giuffra, A. Haynes, N. Irving, L. James, R. Mant, P. Newton, K. Rooke, P. Roques, C. Talbot, M. Pericak-Vance, A. Roses, R. Williamson, M. Rossor, M. Owen, J. Hardy   +20 more
semanticscholar   +1 more source

Mutation in blood coagulation factor V associated with resistance to activated protein C

Nature, 1994
R. Bertina, B. Koeleman, T. Koster, F. Rosendaal, R. Dirven, H. D. Ronde, P. Velden, P. Reitsma   +7 more
semanticscholar   +1 more source

Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2

Nature, 2000
M. Higuchi, S. Maas, F. Single, Jochen C. Hartner, A. Rozov, N. Burnashev, D. Feldmeyer, R. Sprengel, P. Seeburg   +8 more
semanticscholar   +1 more source