Pediatric Neurology Briefs
Published 2005 | Version v1.0.0
Journal Article Open

Hepatocerebral Mitochondrial DNA Depletion

Creators

Abstract

Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia.

Files

PNB-19-58-a.pdf

Files (1.3 MB)

Name Size Download all
md5:c2aed532953ed6c2e0097a89ba4cd865
1.3 MB Preview Download

Additional details

Identifiers

Other
PNB-19-58-a

Dates

Created
2005
When the item was originally created.