Citations for
1PCCA
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M.
Mol Genet Metab 96(4):171-6. Epub 2009 Jan 20. 2009
2MMAA, MMAB, MMACHC, PCCA, PCCB
Methylmalonic and propionic aciduria.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C.
Am J Med Genet C Semin Med Genet 142(2):104-12. Review. 2006
3PCCA, PCCB
New splicing mutations in propionic acidemia.
Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B.
J Hum Genet 51(11):992-7. Epub 2006 Oct 19. 2006
4PCCA, PCCB
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T.
Mol Genet Metab 81(4):335-42. 2004
5PCCA
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M.
Mol Genet Metab 83(1-2):28-37. Review. 2004
6PCCA
Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S, Martinez MA, Perez B, Perez-Cerda C, Ugarte M, Desviat LR.
Biochim Biophys Acta 1588(2):119-25. 2002
7PCCA, PCCB
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Perez-Cerda C, Merinero B, Rodriguez-Pombo P, Perez B, Desviat LR, Muro S, Richard E, Garcia MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martinez-Pardo M, Campistol J, Perez M, Lama R, Murga ML, Lema-Garrett T, Verdu A, Ugarte M.
Eur J Hum Genet 8(3):187-94. 2000
8PCCA
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
Campeau E, Dupuis L, Leclerc D, Gravel RA.
Hum Mol Genet 8 : 107-113. 1999
9PCCA
Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
Campeau E, et al.
Mol Genet Metab 67(1):11-22. 1999
10PCCA
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.
Richard E, et al.
Biochim Biophys Acta 1453(3):351-8. 1999
11PCCA, PCCB
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M, et al.
Hum Mutat 14(4):275-282 1999
12PCCA
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
Richard E, Desviat LR, Perez B, Perez-Cerda C, Ugarte M.
Hum Genet 101(1):93-6. 1997
13PCCA
Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts.
Stankovics J, et al.
Am J Hum Genet 52 : 144-151. 1993
14PCCA
Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization.
Kennerknecht I, et al.
Genomics 14 : 550-551. 1992
15PCCA, PCCB
Genetic heterogeneity of propionic acidemia : analysis of 15 Japanese patients.
Ohura T, et al.
Hum Genet 87 : 41-44. 1991
16PCCA
The gene coding for the alpha-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32.
Kennerknecht I, et al.
Hum Genet 86 : 238-240. 1990
17ATP12A, PCCA, PARP1P1, D13S24, D13S31, D13S32, D13S33, D13S34, D13S35, D13S36, D13S39, D13S41, D13S55, D13S56, D13S59, D13S61
A fine structure linkage map for chromosome 13.
Bowcock AM, et al.
(HGM10) Cytogenet Cell Genet 51 : 966-967. 1989
18PCCA
The alpha chain of human propionyl CoA carboxylase (PCCA) (mapped to chromosome 13) detects an RFLP with XmnI.
Bowcock AM, et al.
Nucleic Acids Res 17 : 8400. 1989
19PCCA, PCCB
Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase : Chromosomal assignments and DNA polymorphisms asssociated with PCCA and PCCB genes.
Lamhonwah AM, et al.
Proc Natl Acad Sci U S A 83 : 4864-4868. 1986
20PCCA
Propionicacidemia: absence of alpha chain mRNA in pccA complementationgroup.
Lamhonwah AM, et al.
Am J Hum Genet 37 : A164. 1985
21PCCA
Inherited propionyl-CoA carboxylase deficiency in ketotic hyoerglycinemia.
Hsia YE, et al.
J Clin Invest 50 : 127-130. 1971
22PCCA
Localisation of enzymic defect in propionicacidaemia.
Gompertz D, et al.
Lancet I : 1140-1143. 1970
23PCCA
Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism.
Childs B, et al.
Pediatrics 27 : 522-538. 1961