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Human Mutation|August 28, 2007
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codonsSimone Schimpf, Nico Fuhrmann, Simone Schaich, et al.Human Mutation|August 30, 2007
The novel human SHOX allelic variant databaseBeate Niesler, Ralph Röth, Steffi Wilke, et al.Human Mutation|August 30, 2007
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databasesR G H Cotton, A D Auerbach, A F Brown, et al.Human Mutation|June 21, 2008
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzymeWendy E Kutz, Lauren W Wang, Nathalie Dagoneau, et al.Human Mutation|December 8, 2006
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 elementManuèle Miné, Jian-Min Chen, Michèle Brivet, et al.Human Mutation|October 7, 2006
Genotype-phenotype correlations in von Hippel-Lindau diseaseKai Ren Ong, Emma R Woodward, Pip Killick, et al.Human Mutation|January 18, 2007
Deletion of exon 16 of the dystrophin gene is not associated with diseaseMarianne Schwartz, Morten Dunø, Anne Lise Palle, et al.Human Mutation|February 20, 2004
A nicotine C-oxidase gene (CYP2A6) polymorphism important for promoter activityMarià Pitarque, Oliver von Richter, Cristina Rodríguez-Antona, et al.Human Mutation|July 9, 2004
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codonM G Pittis, V Ricci, V I Guerci, et al.Human Mutation|July 9, 2004
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patientsHeini Hartikka, Kaija Kuurila, Jarmo Körkkö, et al.Pageof 583