rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
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
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
24368466
2013
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
17453626
2007
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Genetic microheterogeneity of human transthyretin detected by IEF.
17503405
2007
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
BEFREE
We previously described the TTR mutation (Val30Ala ) in the first Hong Kong Chinese family with ATTR .
17968690
2007
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
16185074
2005
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
15214015
2004
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
12403615
2002
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
12050338
2002
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
11445644
2001
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
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
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
10071047
1999
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
10439117
1999
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
10611950
1999
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
10211412
1999
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Transthyretin amyloidosis: a new mutation associated with dementia.
9066351
1997
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
7850982
1995
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
8019560
1994
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
1351039
1992
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
A new transthyretin mutation associated with amyloid cardiomyopathy.
1570831
1992
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
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
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
2891727
1988
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810
GeneticVariation
UNIPROT
Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
3818577
1986
rs79977247
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C
0.810
CausalMutation
CLINVAR