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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 Rott
Human Mutation|June 30, 2000
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5L Kozák, H Francová, E Hrabincová, et al.
Human Mutation|June 30, 2000
Identification of PATCHED mutations in medulloblastomas by direct sequencingJ Dong, M R Gailani, S L Pomeroy, et al.
Human Mutation|June 30, 2000
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one familyH N Yeowell, L C Walker, B Farmer, et al.
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