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Human Mutation|January 1, 1995
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S)P T Tieu, G Bach, A Matynia, et al.Human Mutation|January 1, 1995
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and JapanT Paunio, Y Sunada, S Kiuru, et al.Human Mutation|January 1, 1995
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)L Pulkkinen, J A McGrath, A M Christiano, et al.Human Mutation|January 1, 1994
Identification of rare and novel mutations in the CFTR genes of CF patients in southern EnglandS Shackleton, J Hull, S Dear, et al.Human Mutation|January 1, 1994
Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysisJ Weidner, A Eigel, J Horst, et al.Human Mutation|January 1, 1994
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reductionT Dörk, K Will, K Grade, et al.Human Mutation|January 1, 1995
Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutationsF A Eggerding, D M Iovannisci, E Brinson, et al.Human Mutation|January 1, 1995
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel allelesC Verlingue, N I Kapranov, B Mercier, et al.Human Mutation|January 1, 1997
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vesselsH Kuivaniemi, G Tromp, D J ProckopHuman Mutation|January 1, 1997
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populationsS Byck, L Tyfield, K Carter, et al.Pageof 583