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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.
|
15523922 |
2004 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Autopsy findings in a 68-year-old FAP patient with a homozygous mutation of the Val30Met TTR gene were described.
|
15185500 |
2004 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs.
|
14986482 |
2003 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the therapeutic efficacy of liver transplantation in patients with ATTR Val30Met familial amyloid polyneuropathy (FAP), were repeatedly examined the neurophysiological function of peripheral nerves in nine patients.
|
12762137 |
2003 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, the presence of an autoantibody against ATTR Val30Met was evaluated via ELISA using purified ATTR Val30Met from homozygotic FAP patients' sera.
|
11907422 |
2002 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common amyloidogenic TTR variant is V30M-TTR, and L55P-TTR is the variant associated with the most aggressive form of FAP.
|
10551861 |
1999 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met.
|
10611950 |
1999 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.
|
9843084 |
1998 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology.
|
7577941 |
1995 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The level of the variant TTR (methionine instead of valine at position 30) in his serum was much higher than that usually found in type I FAP patients.
|
1490495 |
1992 |