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Human Mutation|April 11, 2001
Allelic association with SNPs: metrics, populations, and the linkage disequilibrium mapA Collins, S Ennis, P Taillon-Miller, et al.
Human Mutation|April 11, 2001
SNPs, protein structure, and diseaseZ Wang, J Moult
Human Mutation|April 11, 2001
Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family informationK Rohde, R Fuerst
Human Mutation|April 11, 2001
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) geneW Kugler, A Pekrun, P Laspe, et al.
Human Mutation|April 11, 2001
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasiaK Pääkkönen, S Cambiaghi, G Novelli, et al.
Human Mutation|August 31, 2002
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patientsJ A Arranz, F Piñol, L Kozak, et al.
Human Mutation|August 31, 2002
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathiesStefanie Katzke, Patrick Booms, Frank Tiecke, et al.
Human Mutation|August 31, 2002
Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphismsSilva Hećimović, Natasa Klepac, Jelena Vlasić, et al.
Human Mutation|August 31, 2002
Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemiaLisa Y S Chan, Ching-Wan Lam, Ying-Tat Mak, et al.
Human Mutation|August 31, 2002
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemiaSergio Massayuki Tani, Yue Wang, Hirokazu Kanegane, et al.
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