Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Chromosome 22q11.2 deletions are found in almost 90% of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). Large, chromosome-specific low copy repeats (LCRs), flanking and within the deletion interval, are presumed to lead to misalignment and aberrant recombination in meiosis resulting in...

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Detalhes bibliográficos
Main Authors: Saitta, Sulagna C., Harris, Stacy E., Gaeth, Ann P., Driscoll, Deborah A., McDonald-McGinn, Donna M., Maisenbacher, Melissa K., Yersak, Jill M., Chakraborty, Prabir K., Hacker, April M., Zackai, Elaine H., Ashley, Terry, Emanuel, Beverly S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2003
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2836129/
https://ncbi.nlm.nih.gov/pubmed/14681306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddh041
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