(PDF) Mutations of POLR3A Encoding a Catalytic Subunit of

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2012.10.001

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Date

November 1, 2012

Authors

Odile Boespflug-Tanguy

Publisher

Elsevier BV

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Amanote Research

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2012.10.001

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

The BN51 Protein Is a Polymerase (Pol)-Specific Subunit of RNA Pol III Which Reveals a Link Between Pol III Transcription and Pre-rRNA Processing.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Ty1 Integrase Interacts With RNA Polymerase III-specific Subcomplexes to Promote Insertion of Ty1 Elements Upstream of Polymerase (Pol) III-transcribed Genes

A Minimal RNA Polymerase III Transcription System