An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

[57] Sequencing end-labeled DNA with base-specific chemical cleavages

1980 • 15,302 citations

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1984 • 586 citations

Direct identification of sickle cell anemia by blot hybridization.

1981 • 148 citations

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

1989 • 130 citations

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

1985 • 127 citations

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

1988 • 114 citations

Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits.

1980 • 111 citations

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

1977 • 104 citations

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.

1986 • 102 citations

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.

1986 • 74 citations

Sequence Analysis, Biogenesis, and Mitochondrial Import of the α-Subunit of Rat Liver Propionyl-CoA Carboxylase

1989 • 61 citations

Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase.

1986 • 54 citations

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

1987 • 34 citations

Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.

1989 • 33 citations

Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.

1987 • 16 citations