(Q58485738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

[Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome] (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

Françoise Clerget-Darpoux

24 January 2020

author

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Anne-Louise Leutenegger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

author name string

Patrick Edery

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Eudeline Alix

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

publication date

27 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

130-133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22377294%20AND%20SRC:MED&resulttype=core&format=json

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

24 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

U12DB: a database of orthologous U12-type spliceosomal introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Classification of introns: U2-type or U12-type

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Gene expression profiling of U12-type spliceosome mutant Drosophila reveals widespread changes in metabolic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

A revised model for U4atac/U6atac snRNA base pairing

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004

Genetics. Minor splicing, disrupted.

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012282004