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Human Mutation|August 8, 2007
Sequence variation database for the Wilson disease copper transporter, ATP7BSusan M Kenney, Diane W CoxHuman Mutation|October 11, 2007
Genetic subtyping of Fanconi anemia by comprehensive mutation screeningNajim Ameziane, Abdellatif Errami, France Léveillé, et al.Human Mutation|October 11, 2007
GPCR NaVa database: natural variants in human G protein-coupled receptorsJeroen Kazius, Kerstin Wurdinger, Maarten van Iterson, et al.Human Mutation|November 22, 2007
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosaMatthias Titeux, Valérie Pendaries, Laure Tonasso, et al.Human Mutation|July 31, 2008
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseasesSabrina Mitchell, Clint Ellingson, Thomas Coyne, et al.Human Mutation|April 30, 2009
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic populationJenea Bin, Jagadeesan Madhavan, Walter Ferrini, et al.Human Mutation|May 12, 2009
Modeling ATM mutant proteins from missense changes confirms retained kinase activityGiancarlo Barone, Alix Groom, Anne Reiman, et al.Human Mutation|April 23, 2009
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing lossSoo-Young Choi, Hong-Joon Park, Kyu Yup Lee, et al.Human Mutation|February 24, 2009
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kineticsL Tabatabaie, T J de Koning, A J J M Geboers, et al.Human Mutation|February 24, 2009
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type IaAna I Vega, Celia Pérez-Cerdá, Lourdes R Desviat, et al.Pageof 574