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Human Mutation|April 11, 2001
Maori origins, Y-chromosome haplotypes and implications for human history in the PacificP A Underhill, G Passarino, A A Lin, et al.
Human Mutation|April 11, 2001
Characterization of publicly available SNPs in the Korean populationS G Lee, S Hong, Y Yoon, et al.
Human Mutation|April 11, 2001
High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promiseM S Bray, E Boerwinkle, P A Doris
Human Mutation|April 11, 2001
Mutation analysis of the tyrosinase gene in oculocutaneous albinismO Camand, D Marchant, S Boutboul, et al.
Human Mutation|March 1, 2000
C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. OnlineC Szalai, D Triga, A Czinner
Human Mutation|March 1, 2000
Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. OnlineS Feshchenko, J Brinckmann, H W Lehmann, et al.
Human Mutation|September 30, 1999
Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate array diagonal gel electrophoresis (MADGE)J W Holloway, B Beghé, S Turner, et al.
Human Mutation|September 30, 1999
The DeltaF508 mutation in Ecuador, South AmericaC Paz-y-Miño, J C Pérez, R Burgos, et al.
Human Mutation|September 30, 1999
A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VIJ Heikkinen, B Pousi, M Pope, et al.
Human Mutation|September 30, 1999
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiencyC Climent, M A García-Pérez, P Sanjurjo, et al.
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