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Human Mutation|March 16, 2007
The 2006 Human Genome Variation Society scientific meetingWilliam S OettingHuman Mutation|September 4, 2007
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 geneMaria Pia Sperandeo, Generoso Andria, Gianfranco SebastioHuman Mutation|December 17, 2008
ATP13A2 variability in Parkinson diseaseCarles Vilariño-Güell, Alexandra I Soto, Sarah J Lincoln, et al.Human Mutation|December 17, 2008
Annotated chromosome maps for renal diseaseAmy Jayne McKnight, Donal O'Donoghue, A Peter MaxwellHuman Mutation|August 30, 2008
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM Chiara Manzini, Danielle Gleason, Bernard S Chang, et al.Human Mutation|October 15, 2008
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatmentRyan L Davis, Vivienne M Homer, Peter M George, et al.Human Mutation|October 15, 2008
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variationMannis van Oven, Manfred KayserHuman Mutation|October 15, 2008
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril Goizet, Amir Boukhris, Emeline Mundwiller, et al.Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.Human Mutation|October 15, 2008
Transcriptional behavior of DMD gene duplications in DMD/BMD malesF Gualandi, M Neri, M Bovolenta, et al.Pageof 583