Kristin K Deeb Jirair K Bedoyan Raymond Wang Leighann Sremba Molly C Schroeder George J Grahame Monica Boyer Shawn E McCandless Douglas S Kerr Shulin Zhang
10.1016/j.ymgmr.2014.08.001
Mol Genet Metab Rep
2014 Aug 28;1:362-367.
mosaicism mutation analysis pdha1 gene pdhc deficiency
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/27896109/
Case Reports
PMC5121365
27896109
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
2014