rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
15214015
2004
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
7850982
1995
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
Transthyretin amyloidosis: a new mutation associated with dementia.
9066351
1997
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
A new transthyretin mutation associated with amyloid cardiomyopathy.
1570831
1992
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
1351039
1992
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
12403615
2002
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
16185074
2005
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.
27238058
2016
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing.
9748569
1998
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study.
16530227
2006
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
17453626
2007
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center.
24073013
2013
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area.
27858761
2015
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
8019560
1994
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
10071047
1999
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
BEFREE
This follow-up study of ATTR patients carrying a wide range of mutations indicates that (1) cardiac involvement is a very important component of phenotypic expression; and (2) genotype is an important source of heterogeneity in myocardial involvement, with Glu89Gln being associated with a severe, heart-driven prognosis.
17062380
2006
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
Combined heart and liver transplantation in four adults with familial amyloidosis: experience of a single center.
15110620
2004
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
10439117
1999
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
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
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
BEFREE
Here, the authors review the clinical and histologic cutaneous findings of FAP previously described in the literature and report on 3 patients with unique genetic mutations (Thr60Ala and Gly6Ser; Trp41Leu; Glu89Gln ) for which cutaneous involvement has not previously been described .
26959691
2016
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
2161654
1990
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
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
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
BEFREE
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.
31826067
2019
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.840
GeneticVariation
UNIPROT
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
10611950
1999
rs121918082
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.840
CausalMutation
CLINVAR
THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.
24767411
2014