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

@article{Clavero2004QualitativeAQ,
  title={Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes},
  author={Sonia Clavero and Bel{\'e}n P{\'e}rez and Ana Maria Cosias Rincon and Magdalena Ugarte and Lourdes R Desviat},
  journal={Human Genetics},
  year={2004},
  volume={115},
  pages={239-247}
}
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 real-time PCR methods, and which presumably are sufficient to moderate the phenotype. We… CONTINUE READING