The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

INTRODUCTION: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eigh...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Eur J Hum Genet
Κύριοι συγγραφείς: Mortreux, Jérémie, Busa, Tiffany, Germain, Dominique P., Nadeau, Gwenaël, Puechberty, Jacques, Coubes, Christine, Gatinois, Vincent, Cacciagli, Pierre, Duffourd, Yannis, Pinard, Jean-Marc, Tevissen, Hélène, Villard, Laurent, Sanlaville, Damien, Philip, Nicole, Missirian, Chantal
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group UK 2017
Θέματα:
Brief Communication
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838970/
https://ncbi.nlm.nih.gov/pubmed/29187737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0018-x
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια