Article
Mutation analysis in 54 propionic acidemia patients.
Journal of inherited metabolic disease - 1 Jan 2012
Kraus J P, Spector E, Venezia S, Estes P, Chiang P W, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer O A, Baumgartner M R, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann J B, Steinfeld R, Beblo S, Koch H G, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab K O, Grünert S C, Sass J O
Abstract excerpt
Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprised of 96 independent alleles. These patients of various ethnic backgrounds came from research centers and hospitals in Germany, Austria and Switzerland. The thorough clinical characterization of these...
Topics
- Adolescent
- Alleles
- Child
- Child, Preschool
- DNA Mutational Analysis
- Escherichia coli
- Female
- Humans
- Infant