Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: David, Stéphanie, Ferreira, Joana, Quenez, Olivier, Rovelet-Lecrux, Anne, Richard, Anne-Claire, Vérin, Marc, Jurici, Snejana, Le Ber, Isabelle, Boland, Anne, Deleuze, Jean- François, Frebourg, Thierry, Mendes de Oliveira, João Ricardo, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110050/
https://ncbi.nlm.nih.gov/pubmed/27245298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.50
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