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In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
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1
Peroxisomal Disorders and Regulation of Genes
Oct 13, 2012, Springer
paperback
1461347823 9781461347828
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2
Peroxisomal Disorders and Regulation of Genes
2012, Springer London, Limited
in English
1441990720 9781441990723
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3
Peroxisomal disorders and regulation of genes
2003, Kluwer Academic/Plenum Publishers
in English
030648174X 9780306481741
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4
Peroxisomal disorders and regulation of genes
2003, Kluwer Academic / Plenum Publishers
in English
030648174X 9780306481741
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5
Peroxisomal Disorders and Regulation of Genes (Advances in Experimental Medicine and Biology)
December 31, 2003, Springer
Hardcover
in English
- 1 edition
030648174X 9780306481741
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6
Peroxisomal disorders and regulation of genes
2003, Kluwer Academic / Plenum Publishers
in English
030648174X 9780306481741
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Book Details
First Sentence
"Why would one study regulation of genes in inherited disorders?"
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