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Article

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.

Human genetics - 1 Aug 2004

Clavero Sonia, Pérez Belén, Rincón Ana, Ugarte Magdalena, Desviat Lourdes R

Abstract excerpt

In this work we analyze splicing mutations identified in propionic acidemia patients to clarify their functional effects and their involvement in the disease phenotype. Two mutations in the PCCA gene detected in homozygous patients and involving consensus splice sequences (IVS21+3del4 and IVS22-2A>G) were shown to produce some normal splicing in patients' cells, at very low levels, which were quantitated by...

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Source

Identifiers

PMID: 15235904
DOI: 10.1007/s00439-004-1147-1

Genes

PCCA
PCCB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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