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Pelizaeus-Merzbacher Disease, Pelizaeus- Merzbacher
Pelizaeus-Merzbacher Disease, Pelizaeus- Merzbacher

... with vocal cord paralysis, feeding difficulty, and seizures. Subsequently, developmental milestones are delayed. By around 6 months or later, ataxia of the limbs becomes apparent and over several years, the limb hypotonia is replaced by spasticity of the limbs. Dystonic posturing and athetotic moveme ...
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C2005/F2401 `09
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... The chromosome contains a good copy of P2, but a promoter on one DNA cannot affect transcription on a different DNA. A good copy of say, gene 2, on one DNA can compensate for a bad copy on the other DNA, but a good copy of P2 on the chromosome cannot compensate for a bad one on the plasmid. C. The p ...
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Frequency of two disease-associated mutations in Cavalier King

... if they are mated to another carrier some of the puppies may be born with two copies of the mutation (one from each parent) and be affected by the disease. By taking simple cheek swabs from their dogs and sending them to the AHT for DNA testing, Cavalier breeders can use the genotyping results to id ...
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Mutation



In biology, a mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. Mutations result from damage to DNA which is not repaired or to RNA genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity.Mutation can result in several different types of change in sequences. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in nongenic regions. One study on genetic variations between different species of Drosophila suggests that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70 percent of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or weakly beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state.
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