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Human Mutation|April 5, 2002
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedemaTomás Freiberger, Lenka Kolárová, Pavel Mejstrík, et al.Human Mutation|April 5, 2002
Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256SPremila R John, Michele RamsayHuman Mutation|February 4, 2010
Quantifying the effect of sequence variation on regulatory interactionsThomas Manke, Matthias Heinig, Martin VingronHuman Mutation|February 4, 2010
Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific MeetingWilliam S OettingHuman Mutation|February 4, 2010
Review and update of mutations causing Waardenburg syndromeVéronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, et al.Human Mutation|January 28, 2010
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick, Matthias Eckhardt, Coro Paisán-Ruiz, et al.Human Mutation|January 28, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.Human Mutation|November 10, 2005
Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15Kathy King, Mohammed F Sheikh, Andrew P Cuthbert, et al.Human Mutation|November 10, 2005
The UMD TP53 database and website: update and revisionsDalil Hamroun, Shunsuke Kato, Chikashi Ishioka, et al.Human Mutation|December 6, 2005
Characterization of simple sequence repeat variants linked to candidate genes for behavioral phenotypesZoë Prichard, Simon EastealPageof 583