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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M).
|
29288430 |
2018 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To determine whether CLR01 was effective in vivo, we tested the compound in mice expressing TTR V30M, a model of familial amyloidotic polyneuropathy, which recapitulates the main pathological features of the human disease.
|
24459092 |
2014 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
|
25550818 |
2014 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic polyneuropathy (FAP) ATTR Valine30Methionine.
|
23462670 |
2013 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report.
|
15523922 |
2004 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
|
8599155 |
1996 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In familial amyloidotic polyneuropathy type I the protein constituent is a variant transthyretin molecule that has a Val to Met substitution at residue 30.
|
7490736 |
1995 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule.
|
7987869 |
1994 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A plasma prealbumin variant with a methionine-for-valine substitution at position 30 is closely associated with familial amyloidotic polyneuropathy (FAP) type I.
|
3756182 |
1986 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A transthyretin variant with a methionine for valine substitution at position 30 [TTR(Met30)] is found in Portuguese patients with familial amyloidotic polyneuropathy (FAP).
|
3908483 |
1985 |