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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearran...
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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格式: | Artigo |
語言: | Inglês |
出版: |
Public Library of Science
2011
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主題: | |
在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3136441/ https://ncbi.nlm.nih.gov/pubmed/21779178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002173 |
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