|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome.
|
11140845 |
2000 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Inherited neuropathies: an update.
|
24061768 |
2013 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Transthyretin Leu 68 in a form of cardiac amyloidosis.
|
1786038 |
1992 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
|
25644864 |
2015 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant?
|
23126592 |
2012 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
|
25044787 |
2014 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met.
|
14695346 |
2004 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
|
8721565 |
1996 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
The biological and chemical basis for tissue-selective amyloid disease.
|
15820680 |
2005 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset.
|
23279339 |
2012 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
|
11385707 |
2001 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.
|
1362222 |
1992 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany?
|
21540676 |
2011 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
|
1301926 |
1992 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule.
|
7656439 |
1995 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
|
29455155 |
2018 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.
|
26208957 |
2015 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)
|
8579098 |
1996 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.
|
21692911 |
2011 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
|
28635949 |
2017 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience.
|
20209591 |
2010 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
|
26537620 |
2016 |
|
| Entrez Id: |
7276 |
| Gene Symbol: |
TTR |
TTR
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy.
|
19372189 |
2009 |