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Mutation analysis in 54 propionic acidemia patients

✍ Scribed by J. P. Kraus; E. Spector; S. Venezia; P. Estes; P. W. Chiang; G. Creadon-Swindell; S. Müllerleile; L. de Silva; M. Barth; M. Walter; K. Walter; T. Meissner; M. Lindner; R. Ensenauer; R. Santer; O. A. Bodamer; M. R. Baumgartner; M. Brunner-Krainz; D. Karall; C. Haase; I. Knerr; T. Marquardt; J. B. Hennermann; R. Steinfeld; S. Beblo; H. G. Koch; V. Konstantopoulou; S. Scholl-Bürgi; A. van Teeffelen-Heithoff; T. Suormala; M. Ugarte; W. Sperl; A. Superti-Furga; K. O. Schwab; S. C. Grünert; J. O. Sass

Book ID: 106374831
Publisher: Springer
Year: 2011
Tongue: English
Weight: 180 KB
Volume: 35
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-011-9399-0

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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