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Human Mutation|January 1, 1997
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathyB S Shastry, J F Hejtmancik, M T TreseHuman Mutation|January 1, 1997
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemiaI Vorechovský, L Luo, J M Hertz, et al.Human Mutation|January 1, 1997
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?A M Lund, F Skovby, M SchwartzHuman Mutation|January 1, 1997
Similar mutant frequencies observed between pairs of monozygotic twinsJ Curry, G Bebb, J Moffat, et al.Human Mutation|January 1, 1996
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degenerationT J Keen, C F InglehearnHuman Mutation|January 1, 1996
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detectionA Braun, S Kammerer, H Ambach, et al.Human Mutation|January 1, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase geneW Xu, K H Astrin, R J DesnickHuman Mutation|January 1, 1996
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locusF Capon, C Levato, E Bussaglia, et al.Human Mutation|January 1, 1996
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfectaA C Nicholls, J Oliver, S McCarron, et al.Human Mutation|January 1, 1996
Fumarylacetoacetase mutations in tyrosinaemia type IH Rootwelt, K Høie, R Berger, et al.Pageof 583