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Human Mutation|January 1, 1997
Registries of immunodeficiency patients and mutationsI Lappalainen, J Ollila, C I Smith, et al.Human Mutation|January 1, 1997
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implicationsD A Wenger, M A Rafi, P LuziHuman Mutation|January 1, 1997
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiencyR Arya, M R Lalloz, A J Bellingham, et al.Human Mutation|January 1, 1997
Tay-Sachs disease and HEXA mutations among Moroccan JewsM Kaufman, J Grinshpun-Cohen, M Karpati, et al.Human Mutation|January 1, 1997
Quantitative enriched PCR (QEPCR), a highly sensitive method for detection of K-ras oncogene mutationZ Ronai, T MinamotoHuman Mutation|January 1, 1997
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathiesC Hayward, D J BrockHuman Mutation|January 1, 1997
Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriersB Giovannone, G Sabbadini, L Di Maio, et al.Human Mutation|February 5, 1998
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase geneB Pousi, T Hautala, J C Hyland, et al.Human Mutation|February 5, 1998
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 geneS M Tanner, J Laporte, C Guiraud-Chaumeil, et al.Human Mutation|February 5, 1998
Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCRR Deuter, O MüllerPageof 583