Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Genomic instability is a feature of the human Xp22.31 region wherein deletions are associated with X-linked ichthyosis, mental retardation and attention deficit hyperactivity disorder. A putative homologous recombination hotspot motif is enriched in low copy repeats that mediate recurrent deletion a...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Bi, Weimin, Carvalho, Claudia M. B., Simmons, Alexandra D., Wiszniewska, Joanna, Fang, Ping, Eng, Patricia A., Cooper, M. Lance, Sutton, V. Reid, Roeder, Elizabeth R., Bodensteiner, John B., Delgado, Mauricio R., Prakash, Siddharth K., Belmont, John W., Stankiewicz, Pawel, Berg, Jonathan S., Shinawi, Marwan, Patel, Ankita, Cheung, Sau Wai, Lupski, James R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2011
Témata:
Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3080608/
https://ncbi.nlm.nih.gov/pubmed/21355048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr078
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky