Results 331 to 340 of about 4,355,944 (375)
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Microsatellite instability: The mutator that mutates the other mutator
Nature Medicine, 1996Microsatellite mutations are useful markers of both tumor clonality and genomic instability but the origin of the mutator mutations responsible is still not well understood (pages 676–681).
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Characterization of the mutator mutation mut5-1
Molecular and General Genetics MGG, 1979The mutator mutation mut5-1 has been characterized with respect to a range of parameters which have been used to describe DNA repair mutants of yeast. No marked effect of the mutation on UV-mutability at lower doses was apparent. Diploids homozygous for the mutation are deficient in UV-induced recombination between the alleles his1-1 and hist1-315 ...
D P, Morrison, P J, Hastings
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Mutation Detection and Mutation Databases
cclm, 1998AbstractDetection of mutations in genes is vital throughout biology, however, this activity is time-consuming, expensive and requires a high degree of skill. This is unsatisfactory in a field which is increasing importance. Around 10–12 methods are commonly used with some predominating.
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Journal of Thrombosis and Haemostasis, 2011
See also Zucker M, Rosenberg N, Peretz H, Green D, Bauduer F, Zivelin A, Seligsohn U. Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. This issue, pp 1977–84.
S. Duga, R. Asselta
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See also Zucker M, Rosenberg N, Peretz H, Green D, Bauduer F, Zivelin A, Seligsohn U. Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. This issue, pp 1977–84.
S. Duga, R. Asselta
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Directional mutation pressure, mutator mutations, and dynamics of molecular evolution
Journal of Molecular Evolution, 1993Using a general form of the directional mutation theory, this paper analyzes the effect of mutations in mutator genes on the G+C content of DNA, the frequency of substitution mutations, and evolutionary changes (cumulative mutations) under various degrees of selective constraints.
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Hospital Practice, 1985
The recent revolution in our understanding of biochemical genetics has radically altered the simple concepts that held sway “only yesterday.” Correspondingly, our appreciation of the complexity and variety of mutation has begun to provide a biochemical rationale for much of the clinical heterogeneity observed in many genetic diseases—e.g., the beta ...
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The recent revolution in our understanding of biochemical genetics has radically altered the simple concepts that held sway “only yesterday.” Correspondingly, our appreciation of the complexity and variety of mutation has begun to provide a biochemical rationale for much of the clinical heterogeneity observed in many genetic diseases—e.g., the beta ...
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1978
With the exception of repair mutagenesis, which was reviewed two years ago (RHEASE, 3), the investigations of the basic molecular mechanisms of mutation induction by chemical substances seem to have reached a certain saturation level. The different types of mutations like transitions, transversions, deletions, frameshift mutations, backbone breakage ...
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With the exception of repair mutagenesis, which was reviewed two years ago (RHEASE, 3), the investigations of the basic molecular mechanisms of mutation induction by chemical substances seem to have reached a certain saturation level. The different types of mutations like transitions, transversions, deletions, frameshift mutations, backbone breakage ...
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British Journal of Haematology, 1993
In the present study DNA from 281 unrelated haemophilia A patients including 15 inhibitor patients has been analysed by Southern blotting technique. Using various restriction enzymes, cloned factor VIII cDNA probes and genomic fragments we have identified 14 mutations. Six of the mutations are novel partial factor VIII gene deletions.
R, Schwaab +4 more
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In the present study DNA from 281 unrelated haemophilia A patients including 15 inhibitor patients has been analysed by Southern blotting technique. Using various restriction enzymes, cloned factor VIII cDNA probes and genomic fragments we have identified 14 mutations. Six of the mutations are novel partial factor VIII gene deletions.
R, Schwaab +4 more
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Mutational analysis: new mutations
1995Abstract In the last few years the search for mutations and sequence polymorphisms has been dramatically accelerated by the use of PCR and subsequently by direct sequencing of PCR products (1, 2). In spite of these powerful new methods, direct sequencing is not always practicable in detecting mutations because they may be positioned ...
K Michaelides +4 more
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