Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

BACKGROUND: We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R., Hijazi, Hadia, Grochowski, Christopher M., Gu, Shen, Seeman, Pavel, Woodward, Karen J., Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6902434/
https://ncbi.nlm.nih.gov/pubmed/31818324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0676-0
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