Genome-wide UPD screening in patients with intellectual disability

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. It may occur as isodisomy, heterodisomy or a combination of both and may involve only chromosome segments. UPD can affect each chromosome. The incidence is estimated to be around 1:3500 in live births....

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Schroeder, Christopher, Ekici, Arif Bülent, Moog, Ute, Grasshoff, Ute, Mau-Holzmann, Ulrike, Sturm, Marc, Vosseler, Vanessa, Poths, Sven, Rappold, Gudrun, Riess, Angelika, Riess, Olaf, Dufke, Andreas, Bonin, Michael
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group 2014
Θέματα:
Short Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169544/
https://ncbi.nlm.nih.gov/pubmed/24801762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.63
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