Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

@article{Desviat2004PropionicAM,
  title={Propionic acidemia: mutation update and functional and structural effects of the variant alleles.},
  author={L. Desviat and B. P{\'e}rez and C. P{\'e}rez-Cerd{\'a} and P. Rodr{\'i}guez-Pombo and S. Clavero and M. Ugarte},
  journal={Molecular genetics and metabolism},
  year={2004},
  volume={83 1-2},
  pages={
          28-37
        }
}
Mutations in the PCCA or PCCB genes, encoding both subunits of propionyl-CoA carboxylase, result in propionic acidemia, a life-threatening inborn error of metabolism with autosomal recessive inheritance. To date, 41 mutations in the PCCA gene and 54 in the PCCB gene have been reported, most of them single base substitutions causing amino acid replacements, and a variety of small insertions and deletions and splicing defects. A greater heterogeneity is observed in the PCCA gene, specially in… Expand
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