相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
Karine Choquet et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report
Vishal V. Tewari et al.
BMC PEDIATRICS (2018)
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
Francesco Cali et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Clinical and genetic characterization of leukoencephalopathies in adults
David S. Lynch et al.
BRAIN (2017)
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement
Dimitar N. Azmanov et al.
HUMAN MOLECULAR GENETICS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations
Jun-ichi Takanashi et al.
BRAIN & DEVELOPMENT (2014)
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Nicole I. Wolf et al.
NEUROLOGY (2014)
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Genevieve Bernard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
分享论文
