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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.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 WeberHuman 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.Pageof 574