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The molecular basis of muscular dystrophy in the mdx mouse: a point mutation.
Science, 1989The mdx mouse is an X-linked myopathic mutant, an animal model for human Duchenne muscular dystrophy. In both mouse and man the mutations lie within the dystrophin gene, but the phenotypic differences of the disease in the two species confer much ...
P. Sicinski+5 more
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Novel point mutations in the dystrophin gene
Human Mutation, 1997Duchenne (DMD) and Becker (BMD) type muscular dystrophies are allelic X-linked recessive disorders caused by mutations in the gene encoding dystrophin. About 65% of the cases are caused by deletions, while 5-10% are duplications. The remaining 30% of affected individuals may have smaller mutations (point mutations or small deletions/insertions) which ...
Roberta Sitnik+6 more
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Probes and Point Mutations on the Web
Parasitology Today, 1999Merck & Co, Inc are expanding their donation programme for ‘Mectizan’ (ivermectin, MSD) to include lymphatic filariasis in African countries. SmithKline Beecham donate albendazole to WHO for use by governments and other collaborating organizations. WHO’s target date for eliminating lymphatic filariasis as a public health problem is 2020.
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Nature, 1967
VIRUS particles have been shown to induce chromosome breakage in mammalian tissue culture1–4. If it were a property of viruses to break chromosomes, then one would expect viruses to cause point mutation which would result from errors in the genetic code at the site where the chromosome was broken and reconstituted. With this reasoning, experiments were
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VIRUS particles have been shown to induce chromosome breakage in mammalian tissue culture1–4. If it were a property of viruses to break chromosomes, then one would expect viruses to cause point mutation which would result from errors in the genetic code at the site where the chromosome was broken and reconstituted. With this reasoning, experiments were
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Getting the Point—Mutations in Maize
Crop Science, 2007Point mutations are important tools for understanding gene functions and genetic interactions, as well as for identifying neomorphs. The Maize Targeting Induced Local Lesions IN Genomes (TILLING) Project has been established to provide reverse genetics resources that can screen ethyl methonyl sulfonate (EMS)–mutagenized populations of maize (Zea mays L.
Clifford F. Weil, Rita-Ann Monde
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The entropy characters of point mutation
Science Bulletin, 2008The biological diversity, which depends on the genetic material DNA, is the foundation for a species to survive and evolve. The entropy is the best measurement of biological diversity. Based on the single-parameter and the two-parameter models, here we established some differential equations about the point mutation of a DNA sequence with finite length,
JiaQing Dai+5 more
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1994
In 1968 the journal Nature published a brief article written by the Japanese geneticist Kimura with the title “Evolutionary Rate at the Molecular Level” [6.1]. Kimura laid the foundations of neutral theory, one of the most important theories in modern evolutionary biology.
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In 1968 the journal Nature published a brief article written by the Japanese geneticist Kimura with the title “Evolutionary Rate at the Molecular Level” [6.1]. Kimura laid the foundations of neutral theory, one of the most important theories in modern evolutionary biology.
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1984
Subdivision of mutations into chromosome and genome mutations, on the one hand, and gene or point mutations, on the other, goes back to a time when the microscope was the only technical means for visualizing genetic changes directly and the genetic code was still unknown.
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Subdivision of mutations into chromosome and genome mutations, on the one hand, and gene or point mutations, on the other, goes back to a time when the microscope was the only technical means for visualizing genetic changes directly and the genetic code was still unknown.
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Point Mutations in Myelodysplastic Syndromes [PDF]
Olivier Bernard+2 more
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Point mutations causing the McLeod phenotype
Transfusion, 2002BACKGROUND: The McLeod phenotype is defined by absence of Kx, weakening of Kell system antigens, and acanthocytosis. Individuals with the McLeod phenotype usually develop late‐onset neuromuscular abnormalities. Gene deletions, insertions, and point mutations that affect RNA splicing or that lead to premature stop codons have been reported to cause the
David Russo+3 more
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