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Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Translocations are a common class of chromosomal aberrations and can cause disease by physically disrupting genes or altering their regulatory environment. Some translocations, apparently balanced at the microscopic level, include deletions, duplications, insertions, or inversions at the molecular l...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Sobreira, Nara L.M., Gnanakkan, Veena, Walsh, Michael, Marosy, Beth, Wohler, Elizabeth, Thomas, George, Hoover-Fong, Julie E., Hamosh, Ada, Wheelan, Sarah J., Valle, David
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Cold Spring Harbor Laboratory Press 2011
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3202288/
https://ncbi.nlm.nih.gov/pubmed/21890680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.122986.111
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