(Q78862145)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

title

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

1 reference

B Pérez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

L R Desviat

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

P Rodríguez-Pombo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

S Clavero

4

1 reference

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17 December 2019

R Navarrete

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

C Perez-Cerdá

6

1 reference

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17 December 2019

M Ugarte

7

1 reference

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17 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

17 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

volume

78

1 reference

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17 December 2019

issue

1

1 reference

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17 December 2019

page(s)

59-67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

Structure of the PCCA gene and distribution of mutations causing propionic acidemia

17 December 2019

cites work

1 reference

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7 January 2021

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

1 reference

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7 January 2021

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia

1 reference

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7 January 2021

Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts

1 reference

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7 January 2021

Functional characterization of PCCA mutations causing propionic acidemia.

1 reference

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7 January 2021

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

1 reference

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7 January 2021

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.

1 reference

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

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7 January 2021

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase

1 reference

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7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

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7 January 2021

Prediction of deleterious human alleles

1 reference

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7 January 2021

SNPs, protein structure, and disease.

1 reference

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7 January 2021

Disease-causing mutations in the human genome

1 reference

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7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

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7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

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7 January 2021

RNA processing and human disease

1 reference

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7 January 2021

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

1 reference

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7 January 2021

Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

1 reference

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7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

Movement of the biotin carboxylase B-domain as a result of ATP binding

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900197-X

7 January 2021

10.1016/S1096-7192(02)00197-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559849%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

1 reference