Substitution of serine for α1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen: the effects of glycine substitutions on thermal stability are either position or amino acid specificPACK, M; CONSTANTINOU, C. D; KALIA, K et al.The Journal of biological chemistry (Print). 1989, Vol 264, Num 33, pp 19694-19699, issn 0021-9258, 6 p.Article

PICMI: mapping point mutations on genomesLE PERA, Loredana; MARCATILI, Paolo; TRAMONTANO, Anna et al.Bioinformatics (Oxford. Print). 2010, Vol 26, Num 22, pp 2904-2905, issn 1367-4803, 2 p.Article

A highly specific microarray method for point mutation detectionBAAJ, Yasser; MAGDELAINE, Corinne; UBERTELLI, Virginie et al.BioTechniques. 2008, Vol 44, Num 1, pp 119-126, issn 0736-6205, 8 p.Article

Silent point mutation in DsRed resulting in enhanced relative fluorescence intensityKLASEN, Maik; WABL, Matthias.BioTechniques. 2004, Vol 36, Num 2, pp 236-238, issn 0736-6205, 2 p.Article

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALSMÜNCH, C; SEDLMEIER, R; LUDOLPH, A. C et al.Neurology. 2004, Vol 63, Num 4, pp 724-726, issn 0028-3878, 3 p.Article

The mutational spectrum of single base-apir substitutions causing human genetic disease : patterns and predictionsCOOPER, D. N; KRAWCZAK, M.Human genetics. 1990, Vol 85, Num 1, pp 55-74, issn 0340-6717, 20 p.Article

A conservative amino acid substitution, arginine for lysine, abolishes export of a hybrid protein in Escherichia coli: implications for the mechanism of protein secretionSUMMERS, R. G; HARRIS, C. R; KNOWLES, J. R et al.The Journal of biological chemistry (Print). 1989, Vol 264, Num 33, pp 20082-20088, issn 0021-9258, 7 p.Article

Predicting folding free energy changes upon single point mutationsZHE ZHANG; LIN WANG; YANG GAO et al.Bioinformatics (Oxford. Print). 2012, Vol 28, Num 5, pp 664-671, issn 1367-4803, 8 p.Article

First insight into the prediction of protein folding rate change upon point mutationHUANG, Liang-Tsung; GROMIHA, M. Michael.Bioinformatics (Oxford. Print). 2010, Vol 26, Num 17, pp 2121-2127, issn 1367-4803, 7 p.Article

Prothrombin Frankfurt : a dysfunctional prothrombin characterized by substitution of Glu-466 by AlaDEGEN, S. J. F; MCDOWELL, S. A; SPARKS, L. M et al.Thrombosis and haemostasis. 1995, Vol 73, Num 2, pp 203-209, issn 0340-6245Article

Evidence that a point mutation in dihydrofolate reductase―thymidylate synthase confers resistance to pyrimethamine in falciparum malariaPETERSON, D. S; WALLIKER, D; WELLEMS, T. E et al.Proceedings of the National Academy of Sciences of the United States of America. 1988, Vol 85, Num 23, pp 9114-9118, issn 0027-8424Article

Frequent frameshift and point mutations in the SH gene of human metapneumovirus passaged in vitroBIACCHESI, Stéphane; MURPHY, Brian R; COLLINS, Peter L et al.Journal of virology. 2007, Vol 81, Num 11, pp 6057-6067, issn 0022-538X, 11 p.Article

c-Ki-ras point mutations in ductectatic-type mucinous cystic neoplasms of the pancreasYANAGISAWA, A; KATO, Y; OHTAKE, K et al.Japanese journal of cancer research. 1991, Vol 82, Num 10, pp 1057-1060, issn 0910-5050Article

Single-mismatch detection using gold-quenched fluorescent oligonucleotidesDUBERTRET, Benoit; CALAME, Michel; LIBCHABER, Albert J et al.Nature biotechnology. 2001, Vol 19, Num 4, pp 365-370, issn 1087-0156Article

CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancerWING CHUNG WONG; KIM, Dewey; CARTER, Hannah et al.Bioinformatics (Oxford. Print). 2011, Vol 27, Num 15, pp 2147-2148, issn 1367-4803, 2 p.Article

Clinical Effect of Point Mutations in Myelodysplastic SyndromesBEJAR, Rafael; STEVENSON, Kristen; EBERT, Benjamin L et al.The New England journal of medicine. 2011, Vol 364, Num 26, pp 2496-2506, issn 0028-4793, 11 p.Article

Multilocus sequence type system for the plant pathogen Xylella fastidiosa and relative contributions of recombination and point mutation to clonal diversitySCALLY, Mark; SCHUENZEL, Erin L; STOUTHAMER, Richard et al.Applied and environmental microbiology (Print). 2005, Vol 71, Num 12, pp 8491-8499, issn 0099-2240, 9 p.Article

Pradimicin-resistance of yeast is caused by a point mutation of the histidine-containing phosphotransfer protein Ypd1HIRAMOTO, Fumitaka; NOMURA, Nobuhiko; FURUMAI, Tamotsu et al.Journal of antibiotics (Tokyo. 1968). 2003, Vol 56, Num 12, pp 1053-1057, issn 0021-8820, 5 p.Article

Methylation patterns of the human β-glucuronidase gene locus: Boundaries of methylation and general implications for frequent point mutations at CpG dinucleotidesTOMATSU, Shunji; ORII, Koji O; RAFIQUL ISLAM, M et al.Genomics (San Diego, Calif.). 2002, Vol 79, Num 3, pp 363-375, issn 0888-7543Article

The dysfunction of coagulation factor VII_Padua results from substitution of arginine-304 by glutamineJAMES, H. L; GIROLAMI, A; HUBBARD, J. G et al.Biochimica et biophysica acta, N. Gene structure and expression. 1993, Vol 1172, Num 3, pp 301-305, issn 0167-4781Article

Genetic approaches to protein structure and function : point mutations as modifiers of protein functionMEDYNSKI, D.Bio/technology (New York, N.Y. 1983). 1992, Vol 10, Num 9, pp 1002-1006, issn 0733-222XArticle

Mutations in genetic variants of human serum albumin found in ItalyGALLIANO, M; MINCHIOTTI, L; PORTA, F et al.Proceedings of the National Academy of Sciences of the United States of America. 1990, Vol 87, Num 22, pp 8721-8725, issn 0027-8424, 5 p.Article

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidismARNOLD, A; HORST, S. A; GARDELLA, T. J et al.The Journal of clinical investigation. 1990, Vol 86, Num 4, pp 1084-1087, issn 0021-9738Article

Detection and localization of single base changes by denaturing gradient gel electrophoresisMYERS, R. M; MANIATIS, T; LERMAN, L. S et al.Methods in enzymology. 1987, Vol 155, pp 501-527, issn 0076-6879Article

A Point Mutation in Sec61α1 Leads to Diabetes and Hepatosteatosis in MiceLLOYD, David J; WHEELER, Matthew C; GEKAKIS, Nicholas et al.Diabetes (New York, NY). 2010, Vol 59, Num 2, pp 460-470, issn 0012-1797, 11 p.Article