Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile e...
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
About this item
Full title
Author / Creator
Cartault, François , Munier, Patrick , Benko, Edgar , Desguerre, Isabelle , Hanein, Sylvain , Boddaert, Nathalie , Bandiera, Simonetta , Vellayoudom, Jeanine , Krejbich-Trotot, Pascale , Bintner, Marc , Hoarau, Jean-Jacques , Girard, Muriel , Génin, Emmanuelle , de Lonlay, Pascale , Fourmaintraux, Alain , Naville, Magali , Rodriguez, Diana , Feingold, Josué , Renouil, Michel , Munnich, Arnold , Westhof, Eric , Fähling, Michael , Lyonnet, Stanislas and Henrion-Caude, Alexandra
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative diseas...
Alternative Titles
Full title
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
Authors, Artists and Contributors
Author / Creator
Munier, Patrick
Benko, Edgar
Desguerre, Isabelle
Hanein, Sylvain
Boddaert, Nathalie
Bandiera, Simonetta
Vellayoudom, Jeanine
Krejbich-Trotot, Pascale
Bintner, Marc
Hoarau, Jean-Jacques
Girard, Muriel
Génin, Emmanuelle
de Lonlay, Pascale
Fourmaintraux, Alain
Naville, Magali
Rodriguez, Diana
Feingold, Josué
Renouil, Michel
Munnich, Arnold
Westhof, Eric
Fähling, Michael
Lyonnet, Stanislas
Henrion-Caude, Alexandra
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1539455690
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1539455690
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1111596109
