The amino-acid mutational spectrum of human genetic disease
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* Corresponding author: George M Church for_email_look@arep.med.harvard.edu
Genome Biology 2003, 4:R72 doi:10.1186/gb-2003-4-11-r72
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BioMed Central: 6 citations
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Research
Characterization of pathogenic germline mutations in human Protein Kinases Jose MG Izarzugaza, Lisa EM Hopcroft, Anja Baresic, Christine A Orengo, Andrew CR Martin, Alfonso Valencia BMC Bioinformatics 2011, 12(Suppl 4):S1 (5 July 2011) |
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Research article
Prediction of disease-related mutations affecting protein localization Kirsti Laurila, Mauno Vihinen BMC Genomics 2009, 10:122 (23 March 2009) |
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Research article
Heather A Jackson, Eric A Accili BMC Evolutionary Biology 2008, 8:188 (30 June 2008) |
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Method
Protein interactions in human genetic diseases Benjamin Schuster-Böckler, Alex Bateman Genome Biology 2008, 9:R9 (16 January 2008) A method is presented to identify residues that form part of an interaction interface, leading to the prediction that 1,428 OMIM mutations are related to an interaction defect. |
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Research article
Spectrum of disease-causing mutations in protein secondary structures Sofia Khan, Mauno Vihinen BMC Structural Biology 2007, 7:56 (29 August 2007) |
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Methodology article
Predicting deleterious nsSNPs: an analysis of sequence and structural attributes Richard J Dobson, Patricia B Munroe, Mark J Caulfield, Mansoor AS Saqi BMC Bioinformatics 2006, 7:217 (21 April 2006) |