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Human Mutation|July 12, 2002
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patientsPaola Origone, Alessandro De Luca, Carlo Bellini, et al.
Human Mutation|July 12, 2002
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 geneIlse Gutierrez-Roelens, Thierry Sluysmans, Marc Gewillig, et al.
Human Mutation|July 12, 2002
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairmentN López-Bigas, S Melchionda, R de Cid, et al.
Human Mutation|July 12, 2002
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairmentSusan Kupka, Simone Braun, Susanne Aberle, et al.
Human Mutation|July 19, 2002
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatmentMette Gaustadnes, Bridget Wilcken, Jana Oliveriusova, et al.
Human Mutation|January 1, 1995
Mutations in muscle phosphofructokinase geneN Raben, J B Sherman
Human Mutation|January 1, 1995
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1S H Hahn, D Krasnewich, M Brantly, et al.
Human Mutation|January 1, 1995
Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sitesP K Rogan, T D Schneider
Human Mutation|January 1, 1995
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresisH Bikker, T Vulsma, F Baas, et al.
Human Mutation|January 1, 1995
Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutationR De Leo, G Deidda, A Novelletto, et al.
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