Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

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 for the transcription of transfer R...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Karine Choquet, Sharon Yang, Robyn D. Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E. Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M. Willis, Claudia L. Kleinman, Bernard Brais
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	BMC 2017-04-01
श्रृंखला:	Molecular Brain
विषय:	Leukodystrophy POLR3A Mouse model Hypomyelination RNA Polymerase III Transfer RNAs
ऑनलाइन पहुंच:	http://link.springer.com/article/10.1186/s13041-017-0294-y
टैग:	टैग जोड़ें कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!