×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).
6736244
1984
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.
3722385
1986
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Familial amyloid polyneuropathy.
4079954
1986
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).
3760189
1986
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy.
3097057
1986
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid.
3030336
1987
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
2891727
1988
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).
2840822
1988
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification.
2613237
1989
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).
2363717
1990
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule.
2122246
1990
×
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 homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.
2349941
1990
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
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
×
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
CausalMutation
CLINVAR
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
2046936
1991
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
2046936
1991
×
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
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
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
CLINVAR
Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.
8038017
1993
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Transthyretin gene mutations in British and French patients with amyloid neuropathy.
8509786
1993
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).
8133316
1994