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Human Mutation|January 1, 1995
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutationR Varon, M Stuhrmann, M Macek, et al.Human Mutation|January 1, 1995
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cellsT G Jensen, P Bross, B S Andresen, et al.Human Mutation|January 26, 2006
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasiaN Chassaing, S Bourthoumieu, M Cossee, et al.Human Mutation|February 14, 2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans, Philippe Debeer, Michael Wright, et al.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.Pageof 583