Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D...

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Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: Guo, Tingwei, Diacou, Alexander, Nomaru, Hiroko, McDonald-McGinn, Donna M, Hestand, Matthew, Demaerel, Wolfram, Zhang, Liangtian, Zhao, Yingjie, Ujueta, Francisco, Shan, Jidong, Montagna, Cristina, Zheng, Deyou, Crowley, Terrence B, Kushan-Wells, Leila, Bearden, Carrie E, Kates, Wendy R, Gothelf, Doron, Schneider, Maude, Eliez, Stephan, Breckpot, Jeroen, Swillen, Ann, Vorstman, Jacob, Zackai, Elaine, Benavides Gonzalez, Felipe, Repetto, Gabriela M, Emanuel, Beverly S, Bassett, Anne S, Vermeesch, Joris R, Marshall, Christian R, Morrow, Bernice E
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2018
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6059186/
https://ncbi.nlm.nih.gov/pubmed/29361080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy028
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