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Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
title
Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
main subject
cell biology
0 references
congenital disorder
0 references
Fibrinogen beta chain
1 reference
stated in
GOA release 2020-03-11
Fibrinogen alpha chain
1 reference
stated in
GOA release 2020-03-11
Fibrinogen gamma chain
1 reference
stated in
GOA release 2020-03-11
protein secretion
1 reference
stated in
GOA release 2020-03-11
Hypofibrinogenemia
1 reference
based on heuristic
inferred from title
author
Manuela Platé
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Rosanna Asselta
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Marta Spreafico
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Sharmila Fagoonee
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Flora Peyvandi
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Stefano Duga
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
author name string
Silvia Spena
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Maria Luisa Tenchini
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
language of work or name
English
0 references
publication date
3 August 2008
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
published in
Blood Cells, Molecules and Diseases
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
volume
41
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
page(s)
292-297
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
cites work
The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular mechanisms of congenital hypofibrinogenaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gamma371 Thr-->Ile substitution in the fibrinogen gammaD domain causes hypofibrinogenaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fibrinogen structure and fibrin clot assembly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The assembly of human fibrinogen. The role of the amino-terminal and coiled-coil regions of the three chains in the formation of the alphagamma and betagamma heterodimers and alphabetagamma half-molecules
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
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7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular basis of quantitative fibrinogen disorders.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel fibrinogen variant--Praha I: hypofibrinogenemia associated with gamma Gly351Ser substitution.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
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7 January 2021
based on heuristic
inferred from DOI database lookup
A database for human fibrinogen variants
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fibrinogen Biosynthesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fibrinogen and fibrin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.BCMD.2008.06.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/J.BCMD.2008.06.004
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
PubMed publication ID
18676163
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18676163
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18676163%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
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