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Human Mutation|December 11, 2008
Mechanistic insights into the link between a polymorphism of the 3'UTR of the SLC7A1 gene and hypertensionZhiyong Yang, David M KayeHuman Mutation|December 24, 2008
Fertility defects revealing germline biallelic nonsense NBN mutationsMathilde Warcoin, James Lespinasse, Gilles Despouy, et al.Human Mutation|December 24, 2008
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersWing Yan Yik, Steven J Steinberg, Ann B Moser, et al.Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.Human Mutation|October 16, 2007
Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humansEmidio Capriotti, Leonardo Arbiza, Rita Casadio, et al.Human Mutation|October 16, 2007
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyMarcel R Zurflüh, Johannes Zschocke, Martin Lindner, et al.Human Mutation|October 16, 2007
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified familiesB L Callewaert, A Willaert, W S Kerstjens-Frederikse, et al.Human Mutation|October 16, 2007
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, et al.Human Mutation|October 17, 2007
Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. OnlineO Porzio, O Massa, V Cunsolo, et al.Pageof 583