Article
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
Human mutation - 1 Nov 2016
Sanchez Elena, Darvish Hossein, Mesias Roxana, Taghavi Shaghyegh, Firouzabadi Saghar Ghasemi, Walker Ruth H, Tafakhori Abbas, Paisán-Ruiz Coro
Abstract excerpt
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 protein, as the disease-segregating mutation. By performing functional assays, we showed that HSJ1b-related DnaJ domain...
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