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Human Mutation|January 24, 2006
Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studiesEne-choo Tan, Marie Loh, Danny Chuon, et al.Human Mutation|January 6, 2006
Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPsMette Gaustadnes, Torben F Ørntoft, Jens Ledet Jensen, et al.Human Mutation|January 1, 1997
Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosisW E Highsmith, L H Burch, Z Zhou, et al.Human Mutation|January 1, 1997
Detection of mutations in multi-exon genes: comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutationsA Ganguly, C WilliamsHuman Mutation|January 1, 1997
Single-step DGGE-based mutation scanning of the p53 gene: application to genetic diagnosis of colorectal cancerP Guldberg, T Nedergaard, H J Nielsen, et al.Human Mutation|January 1, 1996
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophyR Spiegel, A R La Spada, W Kress, et al.Human Mutation|January 1, 1996
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A geneL C Blanch, C Meaney, C P MorrisHuman Mutation|January 1, 1996
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndromeR Wu, E Legius, W Robberecht, et al.Human Mutation|January 1, 1996
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of IrelandM M Humphries, F C Mansergh, A S Kiang, et al.Human Mutation|January 1, 1996
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutationsM Kambouris, C E Jackson, G L FeldmanPageof 583