Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. — المؤلف: Ichisima, Jose — Journal of human genetics 20190417

المؤلف
Ichisima, Jose
النشر
Journal of human genetics 20190417
الوصف
445-458 p.
الموضوعات
Alternative Splicing؛ Ataxia Telangiectasia Mutated Proteins؛ Cell Line؛ Dwarfism؛ Facies؛ Female؛ Humans؛ Induced Pluripotent Stem Cells