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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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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | 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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