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Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

✍ Scribed by E. Richard; Lourdes R. Desviat; Belén Pérez; Celia Pérez-Cerdá; M. Ugarte

Book ID
106136807
Publisher
Springer
Year
1997
Tongue
English
Weight
51 KB
Volume
101
Category
Article
ISSN
0340-6717

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Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme located in the mitochondrial matrix. Mutations in the PCCA and PCCB genes, which encode the α α and β β subunits of this heteropolymer, result in propionic acidemia (PA). We report the molecular analysis of β β-deficient patients from Spai