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TL;DR: A point mutation in exon 2 position 47 of the TTR gene, encoding the substitution ofgly-cine with glutamate is found in an Italian family with 5 patients over 3 generations, suggesting the aggressive nature of the pathological process.
Abstract: The most frequent localization of amyloid in transthyretin (TTR) mutations is in the peripheral nerve, causing familial amyloid polyneuropathy (FAP). It is generally accompanied by involvement of other organs such as the myocardium and kidney. To date, over 70 TTR point mutations have been reported in literature, with different phenotypes depending on the location of the mutation in the TTR gene.This paper deals with a point mutation in exon 2 position 47 of the TTR gene, encoding the substitution ofgly-cine with glutamate. The mutation was found in an Italian family with 5 patients over 3 generations. The phenotype was characterised by peripheral neuropathy and autonomic dysfunction, associated in some patients with cardiomyopathy and renal involvement. The symptoms were very severe and the patients did not survive long, thus suggesting the aggressive nature of the pathological process. Moreover, in the succeeding generations of this family, there was genetic anticipation in the age of onset of the disease.
16 citations
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TL;DR: Improvements in a multidimensional liquid chromatography system for the direct determination of drug substances in blood plasma are reported and the limit of detection of propranolol is improved by a factor 10.
16 citations
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TL;DR: Utility of the SNP panels in human ID testing and related applications was demonstrated using degraded DNA and DNA from blood, semen and saliva samples and to compare their utility to STR analysis for human identification and paternity testing.
16 citations
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TL;DR: A three-dimensional map was generated to facilitate structural characterization of 20 identified N-linked oligosaccharides and has been shown to resolve neutral species not able to be separated by the other two dimensions.
16 citations
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TL;DR: This work has investigated the role of flow-rate in determining peak volumes for a constant time gradient and found that flow- rate affects peak volume to a much greater extent than column diameter, which should prove beneficial to subsequent protein characterization methodologies.
16 citations
Authors
Showing all 1521 results
Name | H-index | Papers | Citations |
---|---|---|---|
Richard A. Gibbs | 172 | 889 | 249708 |
Friedrich C. Luft | 113 | 1095 | 47619 |
Alexander N. Glazer | 71 | 208 | 21068 |
Vineet Bafna | 68 | 236 | 42574 |
Kevin R. Coombes | 63 | 308 | 23592 |
Darryl J. Pappin | 61 | 170 | 29409 |
Mark D. Johnson | 60 | 289 | 16103 |
György Marko-Varga | 56 | 409 | 12600 |
Paul Thomas | 56 | 128 | 44810 |
Gerald Zon | 55 | 256 | 11126 |
Michael W. Hunkapiller | 51 | 130 | 29756 |
Bjarni V. Halldorsson | 51 | 145 | 13180 |
David H. Hawke | 50 | 157 | 9824 |
Ellson Y. Chen | 50 | 71 | 28836 |
Sridhar Hannenhalli | 49 | 162 | 21959 |