rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
|
26944031 |
2016 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
|
27144126 |
2016 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
|
25526709 |
2015 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
|
26008863 |
2015 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
|
27896109 |
2014 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
|
23021068 |
2012 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
|
21914562 |
2011 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
|
15384102 |
2004 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
|
10679936 |
2000 |
rs606231189
|
PDHA1;MAP3K15
|
Multiple congenital anomalies
|
CCAAT |
0.700 |
CausalMutation |
CLINVAR |
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
|
7887408 |
1995 |