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Propionic Acidemia Foundation

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Molecular Biology/Biochemistry

  • Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
  • Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
  • Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
  • Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
  • Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
  • High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

Mission

Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.

Website is maintained by PAF.

Disclaimer and Privacy Policy
© 2021 Propionic Acidemia Foundation. All rights reserved.

Location and Contact

1963 McCraren Rd.
Highland Park, IL 60035
[email protected]
U.S. Toll Free 1-877-720-2192
Propionic Acidemia Foundation is a non-profit 501(c)3 organization.