×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
The SSCP pattern suggested the presence of a mutation in exon 2, but was different from the pattern observed for a control representing the most common TTR mutation associated with FAP , i.e., TTR V30M.
10882995
2000
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR .
10611950
1999
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
10071047
1999
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
10439117
1999
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
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
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
10211412
1999
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.
10036587
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. Online.
10694917
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils.
9733771
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online.
10627135
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.
9605286
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.
8990019
1997
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Transthyretin amyloidosis: a new mutation associated with dementia.
9066351
1997
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
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
UNIPROT
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
7850982
1995
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
We propose an approach to molecular diagnosis in European patients with FAP , apart from members of families with known mutations, based on the frequency of TTR mutations observed in this and and other studies of FAP in Europe.
7655883
1995
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
8019560
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
7923855
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
7914929
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
This is the first FAP family of Taiwanese origin demonstrating a causative gene abnormality, and FAP with TTR -Pro55 was considered to be more serious compared with other forms of FAP .
7910950
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.
8081397
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).
8133316
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
8095302
1993
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
Structure of Met30 variant of transthyretin and its amyloidogenic implications.
8382610
1993
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
UNIPROT
A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.
8352764
1993