AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
Amyloidosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.
|
17484624 |
2007 |
Amyloidosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
Amyloid Neuropathies, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.
|
17484624 |
2007 |
Peripheral Neuropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.
|
17484624 |
2007 |
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
Peripheral Nervous System Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.
|
17484624 |
2007 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
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 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin amyloidosis: a new mutation associated with dementia.
|
9066351 |
1997 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
|
3818577 |
1986 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin mutation associated with amyloid cardiomyopathy.
|
1570831 |
1992 |
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 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
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 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
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 |
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 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |