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Protein misfolding and degradation in genetic diseases.
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
review article
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Europe PubMed Central
title
Protein misfolding and degradation in genetic diseases
(English)
1 reference
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
author
Peter Bross
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
Thomas Juhl Corydon
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2
1 reference
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
Brage Storstein Andresen
series ordinal
3
1 reference
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
author name string
Jørgensen MM
series ordinal
4
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
Bolund L
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
Gregersen N
series ordinal
6
1 reference
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
publication date
1 January 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
published in
Human Mutation
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Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
volume
14
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
page(s)
186-198
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
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A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to
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Alpha-1-antitrypsin deficiency
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The N-end rule pathway catalyzes a major fraction of the protein degradation in skeletal muscle
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In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
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21 January 2018
Identifiers
DOI
10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
PubMed ID
10477427
1 reference
stated in
Europe PubMed Central
PubMed ID
10477427
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 December 2019
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