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Human mutation

Showing results (851-860 of 6,545) with videos related to

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Human Mutation|January 1, 1995
A nonsense mutation in two German patients with fucosidosisH C Seo, P H Heidemann, E Lutz, et al.
Human Mutation|January 1, 1995
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adultM C Romey, M Desgeorges, P Ray, et al.
Human Mutation|January 1, 1995
Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutationP Leandro, I Rivera, V Ribeiro, et al.
Human Mutation|January 1, 1993
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the geneT Vulliamy, E Beutler, L Luzzatto
Human Mutation|January 1, 1993
Mutations and polymorphisms in the prion protein geneM S Palmer, J Collinge
Human Mutation|January 1, 1993
Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysisT W Prior, A C Papp, P J Snyder, et al.
Human Mutation|January 1, 1993
A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosaJ A Rodriguez, C A Herrera, D G Birch, et al.
Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Human Mutation|January 1, 1996
Nonsense mutations in a Becker muscular dystrophy and an intermediate patientT W Prior, C Bartolo, A C Papp, et al.
Human Mutation|January 1, 1996
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormoneJ Pohlenz, W Schönberger, H Wemme, et al.
Pageof 655

Showing results (851-860 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1995
A nonsense mutation in two German patients with fucosidosisH C Seo, P H Heidemann, E Lutz, et al.
Human Mutation|January 1, 1995
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adultM C Romey, M Desgeorges, P Ray, et al.
Human Mutation|January 1, 1995
Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutationP Leandro, I Rivera, V Ribeiro, et al.
Human Mutation|January 1, 1993
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the geneT Vulliamy, E Beutler, L Luzzatto
Human Mutation|January 1, 1993
Mutations and polymorphisms in the prion protein geneM S Palmer, J Collinge
Human Mutation|January 1, 1993
Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysisT W Prior, A C Papp, P J Snyder, et al.
Human Mutation|January 1, 1993
A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosaJ A Rodriguez, C A Herrera, D G Birch, et al.
Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Human Mutation|January 1, 1996
Nonsense mutations in a Becker muscular dystrophy and an intermediate patientT W Prior, C Bartolo, A C Papp, et al.
Human Mutation|January 1, 1996
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormoneJ Pohlenz, W Schönberger, H Wemme, et al.
Pageof 655