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Human Mutation|June 3, 2010
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiencyMaría Morán, Lorena Marín-Buera, M Carmen Gil-Borlado, et al.
Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.
Human Mutation|August 21, 2010
Leiden Open Variation Database of the MUTYH geneAstrid A Out, Carli M J Tops, Maartje Nielsen, et al.
Human Mutation|September 18, 2010
Increased sensitivity of KRAS mutation detection by high-resolution melting analysis of COLD-PCR productsLasse S Kristensen, Iben L Daugaard, Mariann Christensen, et al.
Human Mutation|September 18, 2010
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutationsJuergen Scharner, Charlotte A Brown, Matthew Bower, et al.
Human Mutation|June 1, 2010
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndromeTara K Maga, Carla J Nishimura, Amy E Weaver, et al.
Human Mutation|June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel Vaché, Thomas Besnard, Catherine Blanchet, et al.
Human Mutation|September 16, 2010
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 geneFransiska Malfait, Delfien Syx, Philip Vlummens, et al.
Human Mutation|September 16, 2010
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionHolger Thiele, Marcel du Moulin, Katarzyna Barczyk, et al.
Human Mutation|June 24, 2008
Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approachLawrence S Hon, Yan Zhang, Joshua S Kaminker, et al.
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