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Article

New splicing mutations in propionic acidemia.

Journal of human genetics - 1 Jan 2006

Desviat Lourdes R, Clavero Sonia, Perez-Cerdá Celia, Navarrete Rosa, Ugarte Magdalena, Perez Belen

Abstract excerpt

Propionic acidemia results from mutations in either of the two genes, PCCA or PCCB, that encode the two subunits of the propionyl-CoA carboxylase (PCC) enzyme. In this study, we report the identification and analysis of seven novel splicing mutations involving consensus donor and acceptor splice sites. Most of them were identified in patients with a Central Asian origin, and some present in several alleles,...

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Source

Identifiers

PMID: 17051315
DOI: 10.1007/s10038-006-0068-3

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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