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Human Mutation|February 14, 2006
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicingMatthias Titeux, José Enrique Mejía, Luciné Mejlumian, et al.Human Mutation|February 14, 2006
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1Africa Fernandez-L, Francisco Sanz-Rodriguez, Roberto Zarrabeitia, et al.Human Mutation|February 14, 2006
Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NHChristiane Duponchel, Kamel Djenouhat, Véronique Frémeaux-Bacchi, et al.Human Mutation|January 19, 2006
Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin genePanayotis G Zerefos, Penelope C Ioannou, Joanne Traeger-Synodinos, et al.Human Mutation|January 24, 2006
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertensionRajiv D Machado, Micheala A Aldred, Victoria James, et al.Human Mutation|January 24, 2006
A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1Santiago Vernia, Delphine Eberlé, Antonio Hernandez Mijares, et al.Human Mutation|January 24, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutationsRoser Urreizti, Carla Asteggiano, Mónica Cozar, et al.Human Mutation|January 15, 1999
Molecular analysis of chronic granulomatous disease caused by defects in gp91-phoxP J Patiño, J E Perez, J A Lopez, et al.Human Mutation|January 15, 1999
Mutation analyses of North American APS-1 patientsM Heino, H S Scott, Q Chen, et al.Human Mutation|January 15, 1999
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindnessN al-Jandal, G J Farrar, A S Kiang, et al.Pageof 574