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Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

In this study, we described the identification of a large DNAJB2 (HSJ1) deletion in a family with recessive spinal muscular atrophy and Parkinsonism. After performing homozygosity mapping and whole genome sequencing, we identified a 3.8 kb deletion, spanning the entire DnaJ domain of the HSJ1 protei...

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發表在:Hum Mutat
Main Authors: Sanchez, Elena, Darvish, Hossein, Mesias, Roxana, Taghavi, Shaghyegh, Firouzabadi, Saghar Ghasemi, Walker, Ruth H., Tafakhori, Abbas, Paisán-Ruiz, Coro
格式: Artigo
語言:Inglês
出版: 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5375037/
https://ncbi.nlm.nih.gov/pubmed/27449489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23055
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