|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
|
28635949 |
2017 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
|
26537620 |
2016 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
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 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.
|
23713495 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
|
24368466 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany?
|
21540676 |
2011 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
|
15214015 |
2004 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.
|
14640031 |
2003 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
|
12403615 |
2002 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.
|
10436378 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
|
10611950 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Transthyretin amyloidosis: a new mutation associated with dementia.
|
9066351 |
1997 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
|
7850982 |
1995 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
|
8019560 |
1994 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.
|
8038017 |
1993 |