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.