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Human Mutation|January 1, 1995
Allele-specific associated polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormoneM B Grace, G S Buzard, B D Weintraub
Human Mutation|January 1, 1996
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patientsK Silander, P Meretoja, E Nelis, et al.
Human Mutation|January 1, 1996
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase geneT Vulliamy, A Rovira, N Yusoff, et al.
Human Mutation|January 1, 1996
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activityS S Deeb, D N Nevin, L Iwasaki, et al.
Human Mutation|January 1, 1996
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphismsE O Oppliger Leibundgut, B Wermuth, J P Colombo, et al.
Human Mutation|January 1, 1996
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomesD J Hughes, A J Hill, M Macek, et al.
Human Mutation|October 16, 2010
Evaluation of germline BMP4 mutation as a cause of colorectal cancerSteven J Lubbe, Alan M Pittman, Cornelis Matijssen, et al.
Human Mutation|October 30, 2010
PRO-MINE: A bioinformatics repository and analytical tool for TARDBP mutationsSofia Pinto, Kristian Vlahoviček, Emanuele Buratti
Human Mutation|June 26, 2010
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysisSatu Pekkala, Ana I Martínez, Belén Barcelona, et al.
Human Mutation|September 9, 2010
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange SyndromeJorge Oliveira, Cristina Dias, Egbert Redeker, et al.
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