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Human Mutation|March 27, 1999
A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programsV Strelnikov, M Nemtsova, G Chesnokova, et al.Human Mutation|March 27, 1999
Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. OnlineK Manning, J M Fernández-Cañón, X Montagutelli, et al.Human Mutation|June 22, 2000
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutationsM E Rubio-Gozalbo, K P Dijkman, L P van den Heuvel, et al.Human Mutation|June 22, 2000
A novel St(a) glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A geneC H Huang, Y Chen, O O BlumenfeldHuman Mutation|June 22, 2000
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsL M Messiaen, T Callens, G Mortier, et al.Human Mutation|June 22, 2000
Identification of 5 novel mutations in the AGXT geneO Basmaison, M O Rolland, P Cochat, et al.Human Mutation|June 22, 2000
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis childrenA Tessa, A Simonati, A Tavoni, et al.Human Mutation|June 22, 2000
Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish populationD Butkiewicz, M Rusin, C C Harris, et al.Human Mutation|June 22, 2000
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiencyM A Martín, J C Rubio, P del Hoyo, et al.Human Mutation|March 29, 2000
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS geneK Lagerstedt, B M Carlberg, R Karimi-Nejad, et al.Pageof 583