Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients (Q34386605)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

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

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Europe PubMed Central

PubMed publication ID

1 August 2017

propionic acidemia

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author name string

Rodríguez-Pombo P

1

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1 August 2017

Hoenicka J

2

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1 August 2017

Muro S

3

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1 August 2017

Pérez B

4

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1 August 2017

Pérez-Cerdá C

5

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1 August 2017

Richard E

6

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1 August 2017

Desviat LR

7

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1 August 2017

Ugarte M

8

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1 August 2017

language of work or name

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publication date

1 August 1998

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1 August 2017

American Journal of Human Genetics

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1 August 2017

63

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1 August 2017

2

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Europe PubMed Central

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1 August 2017

360-369

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Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Mutations participating in interallelic complementation in propionic acidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Survey of amino-terminal proteolytic cleavage sites in mitochondrial precursor proteins: leader peptides cleaved by two matrix proteases share a three-amino acid motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

6 July 2018

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377311

27 October 2018

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct mutations at the same site in the PCCB gene in propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presence of the Mediterranean PKU mutation IVS10 in Latin America

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting local structural changes that result from point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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