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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.
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19709674 |
2009 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
On the origin of the transthyretin Val30Met familial amyloid polyneuropathy.
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18460047 |
2008 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy.
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18506713 |
2008 |
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rs28933979
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|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
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18925459 |
2008 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Clinical pictures of familial amyloid polyneuropathy (FAP) vary considerably, perhaps because of the many gene mutations of transthyretin (TTR), but even in patients having the most common mutation of TTR (the substitution of methionine for valine at position 30 (ATTRVal30Met)), the age of onset ranges from the late 20s to the early 60s.
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17701472 |
2007 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Value of renal biopsy in the prognosis of liver transplantation in familial amyloid polyneuropathy ATTR Val30Met patients.
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16911964 |
2006 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy.
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15536615 |
2005 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.
|
15949223 |
2005 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
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rs28933979
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|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) type I is caused by a mutated transthyretin (TTR V30M) and characterized by a sensorimotor and autonomic neuropathy.
|
15496172 |
2004 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene.
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15185500 |
2004 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We report an autopsy study of late-onset familial amyloid polyneuropathy with a variant transthyretin Val30Met in 2 brothers living in Kyoto, Japan.
|
14640033 |
2003 |
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rs28933979
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|
0.100 |
GeneticVariation |
BEFREE |
Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan.
|
14640041 |
2003 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Type I (transthyretin Val30Met) familial amyloid polyneuropathy (FAP ATTR Val30Met) has been reported in relation to two endemic foci in Japan.
|
14640040 |
2003 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The Val30 --> Met30 (V30M) TTR mutation is the most prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas a Thr119 --> Met119 (T119M) mutation on the second TTR allele protects V30M carriers from disease.
|
11577236 |
2001 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.
|
11709003 |
2001 |
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rs28933979
|
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|
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 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.
|
9843084 |
1998 |