Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

A.M. Lamhonwah, Teresa J. Barankiewicz, H.F. Willard et al. · Proceedings of the National Academy of Sciences · 1986 · 102 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.

Jan P. Kraus, Claire Williamson, F A Firgaira et al. · Proceedings of the National Academy of Sciences · 1986 · 74 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

Celia Pérez‐Cerdá, B. Merinero, Pilar Rodríguez‐Pombo et al. · European Journal of Human Genetics · 2000 · 71 citations

Life Sciences, Genetics, Pharmacology +10

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Belén Pérez, Lourdes R. Desviat, Pilar Rodríguez‐Pombo et al. · Molecular Genetics and Metabolism · 2003 · 64 citations

Life Sciences, Genetics, Molecular Genetics +6