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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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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2003
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| Soggetti: | |
| Accesso online: | 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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