Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
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DOI: 10.1186/s13041-017-0294-y
Abstract: Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible… read more here.
Keywords: absence neurological; hypomyelinating leukodystrophy; polr3a; mice ... See more keywords