Condition: Pyruvate Carboxylase Deficiency Disease
rs113994145 in
PC gene and
Pyruvate Carboxylase Deficiency Disease
PMID 18676167 2008 The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
PMID 19306334 2009 Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
PMID 23430542 2013 Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.
PMID 12112657 2002 Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.