rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Three Turkish families with different transthyretin mutations.
|
26115788 |
2015 |
rs28933979
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis.
|
24455802 |
2014 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
|
25550818 |
2014 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Gene expression analysis was used to unravel the genetic profiles of Swedish ATTR V30M patients and controls.
|
24601850 |
2014 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
rs28933979
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
|
24368466 |
2013 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Inability of mutant transthyretin V30M to cross the blood-eye barrier.
|
23080516 |
2012 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Genotype--phenotype correlation in FAP.
|
22620962 |
2012 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.
|
19709674 |
2009 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.
|
19808383 |
2009 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.
|
18925456 |
2008 |
rs28933979
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |
rs28933979
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).
|
17698792 |
2007 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.
|
16194874 |
2005 |
rs28933979
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The biological and chemical basis for tissue-selective amyloid disease.
|
15820680 |
2005 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A Swedish family with the rare Phe33Leu transthyretin mutation.
|
16194875 |
2005 |
rs28933979
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
|
15214015 |
2004 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants.
|
15185492 |
2004 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.
|
15249622 |
2004 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Tabulation of human transthyretin (TTR) variants, 2003.
|
14640030 |
2003 |
rs28933979
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |