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Human Mutation|February 12, 2000
A new nonamyloid transthyretin variant, G101S, detected by electrospray ionization/mass spectrometry. Mutations in brief no. 201. OnlineM Kishikawa, T Nakanishi, A Miyazaki, et al.Human Mutation|February 12, 2000
Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. OnlineB Quaresima, C Grandinetti, F Baudi, et al.Human Mutation|February 12, 2000
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. OnlineS L Karsten, E Voskoboeva, B M Carlberg, et al.Human Mutation|June 30, 2000
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basisC M Aalfs, G B Salieb-Beugelaar, R J Wanders, et al.Human Mutation|June 30, 2000
Genetic heterogeneity in Peutz-Jeghers syndromeL A Boardman, F J Couch, L J Burgart, et al.Human Mutation|June 30, 2000
The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutationJ Z Liu, X Li, J Drost, et al.Human Mutation|June 30, 2000
3' polymorphisms of ETS1 are associated with different clinical phenotypes in SLEK E Sullivan, L M Piliero, T Dharia, et al.Human Mutation|June 30, 2000
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPSN Blau, T Scherer-Oppliger, A Baumer, et al.Human Mutation|June 30, 2000
Signature-based analysis of MET proto-oncogene mutations using DHPLCM L Nickerson, G Weirich, B Zbar, et al.Human Mutation|June 30, 2000
Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGEJ Hass, K Mayer, H D RottPageof 583