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English
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients
scientific article published on 01 January 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
title
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
main subject
propionic acidemia
1 reference
based on heuristic
inferred from title
author
Janet Hoenicka
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
author name string
P Rodríguez-Pombo
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
C Pérez-Cerdá
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
S Muro
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
E Richard
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
M Ugarte
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
publication date
1 January 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
volume
Suppl 1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
page(s)
S234-6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
cites work
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110175
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380110175
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
PubMed publication ID
9452096
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452096%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
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