Variant: rs111033542 

    present in Gene: PCCB
    present in Chromosome: 3
    Position on Chromosome: 136327239
    Alleles of this Variant: C/T

rs111033542 in PCCB gene and Propionic acidemia PMID 15059621 2004 Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

PMID 12189489 2002 Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

PMID 12559849 2003 Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

PMID 10447268 1999 Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

PMID 12409268 2002 Molecular analysis of PCCB gene in Korean patients with propionic acidemia.

PMID 2154743 1990 An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

PMID 15890657 2005 Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

PMID 8411997 1993 Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.

PMID 8295402 1993 Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.

PMID 11749052 2001 Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

PMID 9683601 1998 Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.