De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon‐skipping variant
Abstract Aim We previously performed the first trio‐based exome study for bipolar disorder and identified 71 de novo mutations. Among these mutations, the only mutation located at the splice donor site was in UNC13B. We focused on and analyzed the functions of the mutation. Methods In order to analy...
Saved in:
Main Authors: | Takumi Nakamura (Author), Kotori Jimbo (Author), Kazuo Nakajima (Author), Takashi Tsuboi (Author), Tadafumi Kato (Author) |
---|---|
Format: | Book |
Published: |
Wiley,
2018-12-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
by: Jeroen Bremer, et al.
Published: (2019) -
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
by: Kane L Greer, et al.
Published: (2014) -
Targeted Exon Skipping to Address "Leaky" Mutations in the Dystrophin Gene
by: Sue Fletcher, et al.
Published: (2012) -
Efficacy of exon-skipping therapy for DMD cardiomyopathy with mutations in actin binding domain 1
by: Naoko Shiba, et al.
Published: (2023) -
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
by: André Leier, et al.
Published: (2022)