|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
|
12403615 |
2002 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
|
11752443 |
2001 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
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 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
The method was successfully tested using serum from ATTR patients with known variants (Val30-->Met and Val122-->Ile).
|
9949732 |
1999 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
|
10611950 |
1999 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.
|
9017939 |
1997 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Transthyretin amyloidosis: a new mutation associated with dementia.
|
9066351 |
1997 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
|
7850982 |
1995 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
|
8019560 |
1994 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
A new transthyretin mutation associated with amyloid cardiomyopathy.
|
1570831 |
1992 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.
|
2349941 |
1990 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
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 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
|
2891727 |
1988 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
|
3818577 |
1986 |