×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
Biomarker
CTD_human
×
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
UNIPROT
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
CausalMutation
CLINVAR
Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka.
1335038 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
1351039 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
BEFREE
Polymorphic analysis of the length of the Cfr13 I-restriction fragment confirmed the base change, and made it possible to detect the mutant TTR Gly42 gene in the FAP subjects.
1353861 1992
×
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
UNIPROT
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
UNIPROT
Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.
1436517 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
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
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum.
1517749 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
BEFREE
Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum.
1517749 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.
1520326 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.
1520336 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
1544214 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A new transthyretin mutation associated with amyloid cardiomyopathy.
1570831 1992
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
Biomarker
BEFREE
In most types of FAP syndromes the accumulating protein is a transthyretin variant.
1652889 1991
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.
1656975 1991
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.
1734866 1992
×
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
BEFREE
Moreover, the patients with type I FAP are known to have an amyloid protein precursor (a variant of transthyretin ) in serum.
1858483 1991
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.
1932142 1991
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Diagnosis of familial amyloidotic polyneuropathy in France.
1981182 1990
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
1997217 1991
×
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
2046936 1991