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Human Mutation|January 1, 1993
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenesR Vervoort, W Lissens, I LiebaersHuman Mutation|January 1, 1993
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndromeS Marcus, E Christensen, G MalmHuman Mutation|January 1, 1993
Simple, rapid, and accurate determination of deletion mutations by automated DNA sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplificationK Tamura, Y Yamamoto, Y Saeki, et al.Human Mutation|January 1, 1995
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutationL J Valentijn, R A Ouvrier, N H van den Bosch, et al.Human Mutation|January 1, 1995
Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patientsS Dublin, V M Riccardi, K StephensHuman Mutation|January 1, 1995
Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technologyC Jou, J Rhoads, S Bouma, et al.Human Mutation|January 1, 1994
Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single-strand conformation polymorphism methodM Ilmonen, T Heliö, T Ebeling, et al.Human Mutation|January 1, 1994
The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk populationM A Whitney, P Jakobs, M Kaback, et al.Human Mutation|January 1, 1994
Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the geneC R Abernathy, S D Colman, B G Kousseff, et al.Human Mutation|January 1, 1994
Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VIIK K Ho, R Y Kong, T Kuffner, et al.Pageof 582