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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Chromosome rearrangements are a significant cause of intellectual disability and birth defects. Subtelomeric rearrangements, including deletions, duplications and translocations of chromosome ends, were first discovered over 40 years ago and are now recognized as being responsible for several geneti...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Luo, Yue, Hermetz, Karen E., Jackson, Jodi M., Mulle, Jennifer G., Dodd, Anne, Tsuchiya, Karen D., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Ledbetter, David H., Martin, Christa L., Rudd, M. Katharine
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2011
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3168286/
https://ncbi.nlm.nih.gov/pubmed/21729882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr293
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