Results 341 to 350 of about 4,355,944 (375)

The rapid generation of mutation data matrices from protein sequences

Comput. Appl. Biosci., 1992
David T. Jones, W. Taylor, J. Thornton
semanticscholar   +1 more source

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.

Science, 1994
M. Gurney, Haifeng Eishingdrelo (Pu), A. Y. Chiu, M. D. Dal Canto, C. Y. Polchow, D. D. Alexander, J. Caliendo, A. Hentati, Y. Kwon, H. Deng   +9 more
semanticscholar   +1 more source

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

Nature, 2001
Y. Ogura, D. Bonen, N. Inohara, Dan L. Nicolae, Felicia F. Chen, Richard Ramos, Heidi M. Britton, Thomas Moran, Reda Karaliuskas, R. Duerr, J. Achkar, S. Brant, T. Bayless, B. Kirschner, S. Hanauer, G. Núñez, Judy H. Cho   +16 more
semanticscholar   +1 more source

MutationTaster2: mutation prediction for the deep-sequencing age

Nature Methods, 2014
Jana Marie Schwarz, D. Cooper, M. Schuelke, D. Seelow   +3 more
semanticscholar   +1 more source

Mutation

2020
Bos, C.J., Stadler, D.
openaire   +2 more sources

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 the α-Synuclein Gene Identified in Families with Parkinson's Disease

, 1997
M. Polymeropoulos, C. Lavedan, E. Leroy, S. E. Ide, A. Dehejia, A. Dutra, B. Pike, H. Root, J. Rubenstein, R. Boyer, E. Stenroos, S. Chandrasekharappa, A. Athanassiadou, T. Papapetropoulos, W. Johnson, A. Lazzarini, R. Duvoisin, G. Iorio, L. Golbe, R. Nussbaum   +19 more
semanticscholar   +1 more source

Mutational analysis: known mutations

1995
Abstract This chapter attempts to illustrate the various PCR options that are available to detect specific mutations and/or polymorphisms in genomic DNA. In so doing, the relative merits and drawbacks of each technique are addressed in the respective sections. For some methods of PCR-assisted mutation detection covered in this chapter, a
openaire   +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

A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

Nature, 2005
C. James, V. Ugo, J. L. Couédic, J. Staerk, F. Delhommeau, C. Lacout, L. Garçon, H. Raslova, R. Berger, A. Bennaceur-Griscelli, J. Villeval, S. Constantinescu, N. Casadevall, W. Vainchenker   +13 more
semanticscholar   +1 more source