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Human Mutation|October 1, 2003
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)K L Thomson, A L Gloyn, K Colclough, et al.
Human Mutation|October 1, 2003
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine diseaseMarco Henneke, Nadine Flaschker, Christoph Helbling, et al.
Human Mutation|October 1, 2003
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutationsJ I Martínez-Ferrandis, A Vega, I Chirivella, et al.
Human Mutation|October 1, 2003
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-IcVibeke Westphal, Ming Xiao, Pui-Yan Kwok, et al.
Human Mutation|May 8, 2013
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key toolCarmen Diez-Fernandez, Ana I Martínez, Satu Pekkala, et al.
Human Mutation|May 8, 2013
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD geneAliya Ishmukhametova, Jian-Min Chen, Rafaëlle Bernard, et al.
Human Mutation|April 16, 2013
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancerChristopher G Smith, Marc Naven, Rebecca Harris, et al.
Human Mutation|April 18, 2013
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitorsSapna Gupta, Liqun Wang, Janet Anderl, et al.
Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
Human Mutation|April 18, 2013
Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defectsXue-Yan Yang, Xiang-Yu Zhou, Qing Qing Wang, et al.
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