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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.
Human Mutation|January 1, 1996
Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patientA Duarte, M Amaral, C Barreto, et al.
Human Mutation|January 1, 1996
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information CoreF J Couch, B L Weber
Human Mutation|January 1, 1996
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancerH M Jeon, P M Lynch, L Howard, et al.
Human Mutation|January 1, 1996
Mutations in the BRCA1 gene in Japanese breast cancer patientsT Katagiri, M Emi, I Ito, et al.
Human Mutation|January 1, 1996
Mutation detection by solid phase primer extensionJ M Shumaker, A Metspalu, C T Caskey
Human Mutation|January 1, 1997
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) geneJ A van den Hurk, M Schwartz, H van Bokhoven, et al.
Human Mutation|January 1, 1997
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresisH Nissen, N E Petersen, S Mustajoki, et al.
Human Mutation|January 1, 1997
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrentJ Körkkö, H Kuivaniemi, P Paassilta, et al.
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