Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of inherited metabolic disease - 1 Jan 1994

Pérez-Cerdá C, Rodríguez-Pombo P, Ugarte M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Carboxy-Lyases
Share to DNA Mutational Analysis
Share to Methylmalonyl-CoA Decarboxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Propionates

Share to Sequence Deletion

Source

Identifiers

PMID: 7707688
DOI: 10.1007/BF00712007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.PMID 7707688Read ↗

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

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain.Semantic proximity Read ↗

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.Semantic proximity Read ↗

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.Semantic proximity Read ↗

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.Semantic proximity Read ↗

Mutation analysis in 54 propionic acidemia patients.Semantic proximity Read ↗

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.