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Human Mutation|September 15, 2006
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronismLucie Pujo, Jérôme Fagart, Françoise Gary, et al.Human Mutation|August 31, 2006
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsiesRaül Santamaria, Amparo Chabás, Maria Josep Coll, et al.Human Mutation|August 31, 2006
Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancersLaura D Wood, Eric S Calhoun, Natalie Silliman, et al.Human Mutation|August 31, 2006
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndromeKathy King, Frances A Flinter, Peter M GreenHuman Mutation|August 31, 2006
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletionsSimona Cavalieri, Ada Funaro, Paola Porcedda, et al.Human Mutation|August 29, 2006
SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAsAbdou ElSharawy, Carl Manaster, Markus Teuber, et al.Human Mutation|September 9, 2006
Molecular approaches in the diagnosis of primary immunodeficiency diseasesMaurizio Costabile, Alex Quach, Antonio FerranteHuman Mutation|September 9, 2006
RAG-dependent primary immunodeficienciesCristina Sobacchi, Veronica Marrella, Francesca Rucci, et al.Human Mutation|September 28, 2006
Immunodeficiency mutation databases (IDbases)Hilkka Piirilä, Jouni Väliaho, Mauno VihinenHuman Mutation|July 26, 2006
An automated procedure to identify biomedical articles that contain cancer-associated gene variantsRyan McDonald, R Scott Winters, Claire K Ankuda, et al.Pageof 583