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Human Mutation|October 13, 2005
Mutation rates at Y chromosome specific microsatellitesL Gusmão, P Sánchez-Diz, F Calafell, et al.Human Mutation|November 11, 2005
Preferential occurrence of 1-2 microindelsKathleen A Hill, Kelly D Gonzalez, William A Scaringe, et al.Human Mutation|November 11, 2005
An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutationsRebecca E Saunders, Timothy H J Goodship, Peter F Zipfel, et al.Human Mutation|October 14, 2005
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathiesEloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, et al.Human Mutation|January 1, 1993
Mutations of the APC (adenomatous polyposis coli) geneH Nagase, Y NakamuraHuman Mutation|January 1, 1993
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase geneJ J Hopwood, S Bunge, C P Morris, et al.Human Mutation|January 1, 1993
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VIIB M Wu, W S SlyHuman Mutation|January 1, 1993
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophyJ S Harvey, P V Nelson, W F Carey, et al.Human Mutation|January 1, 1994
Enzymatic amplification of synthetic oligodeoxyribonucleotides: implications for triplet repeat expansions in the human genomeA Behn-Krappa, W DoerflerHuman Mutation|January 1, 1994
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?E Sidransky, A Bottler, B Stubblefield, et al.Pageof 583