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Human Mutation|August 31, 2002
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia ANadja Bogdanova, Arseni Markoff, Hartmut Pollmann, et al.
Human Mutation|December 19, 2001
Spontaneous and MNNG-induced reversion of an EGFP construct in HeLa cells: an assay for observing mutations in living cells by fluorescent microscopyF Gemignani, S Landi, D M DeMarini, et al.
Human Mutation|December 19, 2001
Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from SpainJ Godino, M de La Hoya, E Diaz-Rubio, et al.
Human Mutation|December 19, 2001
Novel frameshift mutations in CRX associated with Leber congenital amaurosisC Rivolta, N E Peck, A B Fulton, et al.
Human Mutation|August 29, 2001
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationshipN Gregersen, B S Andresen, M J Corydon, et al.
Human Mutation|August 29, 2001
Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresisL Lodewyckx, C Vandevyver, C Vandervorst, et al.
Human Mutation|August 29, 2001
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategyT Bienvenu, I Souville, K Poirier, et al.
Human Mutation|August 29, 2001
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patientsV Kuhrová, H Francová, P Zapletalová, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
Human Mutation|January 29, 2003
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) geneC Proukakis, M Auer-Grumbach, K Wagner, et al.
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