Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections (Q38637282)

http://europepmc.org/abstract/PMC/5669568

3 March 2018

title

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections (English)

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http://europepmc.org/abstract/PMC/5669568

3 March 2018

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8 June 2020

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Jacob Giehm Mikkelsen

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Søren R Paludan

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Jean-Laurent Casanova

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Jean-Laurent Casanova

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Laurent Abel

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Gaspard Kerner

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Charlotte Claes

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Raffaele A Fiorenza

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Charlotte Dielman

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Steven Heynderickx

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8 June 2020

language of work or name

English

0 references

publication date

7 August 2017

1 reference

http://europepmc.org/abstract/PMC/5669568

3 March 2018

published in

Journal of Clinical Investigation

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8 June 2020

volume

127

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issue

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page(s)

3543-3556

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The mutation significance cutoff: gene-level thresholds for variant predictions

8 June 2020

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Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

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Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

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Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

23 June 2018

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NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

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1 reference

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1 reference

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1 reference

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1 reference

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23 June 2018

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1 reference

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1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28783042

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI92280

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

28783042

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json