De novo mutations in POLG presenting with acute liver failure or encephalopathy.
Lutz
Richard E
RE
Department of Genetics, Endocrinology, and Metabolism, Munroe-Meyer Institute, USA.
Dimmock
David
D
Schmitt
Eric S
ES
Zhang
Qing
Q
Tang
Lin-Ya
LY
Reyes
Christine
C
Truemper
Edward
E
McComb
Rodney D
RD
Hernandez
Angel
A
Basinger
Alice
A
Wong
Lee-Jun C
LJ
D001927:Brain Diseases / Q000235:genetics*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial; D004259:DNA-Directed DNA Polymerase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D017114:Liver Failure, Acute / Q000235:genetics*; D008297:Male; D009154:Mutation; D013577:Syndrome; D014777:Virus Diseases / Q000150:complications
D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human