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Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

BACKGROUND: DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers w...

詳細記述

保存先:
書誌詳細
出版年:Mol Cytogenet
主要な著者: Vergés, Laia, Molina, Òscar, Geán, Esther, Vidal, Francesca, Blanco, Joan
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4247602/
https://ncbi.nlm.nih.gov/pubmed/25435913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0086-3
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