|
rs186710233
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis in 54 propionic acidemia patients.
|
22033733 |
2012 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
|
15890657 |
2005 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
|
15059621 |
2004 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
|
12559849 |
2003 |
|
rs186710233
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
|
12757933 |
2003 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
|
12189489 |
2002 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
|
11749052 |
2001 |
|
rs186710233
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
|
11749052 |
2001 |
|
rs186710233
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
|
11136555 |
2000 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.
|
10447268 |
1999 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
|
9683601 |
1998 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
|
8411997 |
1993 |
|
rs186710233
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
|
2154743 |
1990 |