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Human Mutation|January 1, 1994
Mutations in steroid 21-hydroxylase (CYP21)P C White, M T Tusie-Luna, M I New, et al.Human Mutation|January 1, 1997
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophyK Wulff, J E Parrish, F H Herrmann, et al.Human Mutation|October 31, 2009
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patientsMerel S Ebberink, Janet Kofster, Ronald J A Wanders, et al.Human Mutation|December 3, 2009
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD)Marcus Gentsch, Aneta Kaczmarczyk, Karin van Leeuwen, et al.Human Mutation|December 3, 2009
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patientsSikandar G Khan, Koji Yamanegi, Zhi-Ming Zheng, et al.Human Mutation|December 3, 2009
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Elisa Goina, et al.Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.Human Mutation|January 7, 2010
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype studyMarjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.Human Mutation|December 19, 2009
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome"Loïc Guillot, Aurore Carré, Gabor Szinnai, et al.Human Mutation|December 19, 2009
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-functionVincent Jallu, Mathilde Dusseaux, Simon Panzer, et al.Pageof 583