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Transthyretin mutations in health and disease.
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Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
review article
1 reference
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Europe PubMed Central
title
Transthyretin mutations in health and disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
author
Maria João Saraiva
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
author name string
Saraiva MJ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
retrieved
1 August 2017
publication date
1 January 1995
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
volume
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
page(s)
191-196
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
cites work
Transthyretin Leu 68 in a form of cardiac amyloidosis
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reference URL
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7 January 2021
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Characterization of a basic transthyretin variant - TTR Arg 102 - in the German population
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7 January 2021
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Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis
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7 January 2021
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Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy
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Crossref
reference URL
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7 January 2021
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Strjcture of human plasma prealbumin at 2-5 A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding
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7 January 2021
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Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).
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7 January 2021
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Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone
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7 January 2021
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Production of recombinant human transthyretin with biological activities toward the understanding of the molecular basis of familial amyloidotic polyneuropathy (FAP).
1 reference
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Crossref
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7 January 2021
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Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
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Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations
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7 January 2021
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Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
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Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
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Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis
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7 January 2021
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A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy
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7 January 2021
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Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent
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7 January 2021
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A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
A novel transthyretin mutation associated with familial amyloidotic polyneuropathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
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Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the chromosomal gene for human serum prealbumin
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of Met30 variant of transthyretin and its amyloidogenic implications.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
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7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Haplotype analysis of familial amyloidotic polyneuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050302
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380050302
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
PubMed publication ID
7599630
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7599630
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599630%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
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