Developmental splicing deregulation in leukodystrophies related to EIF2B mutations. [electronic resource]
Producer: 20121214Description: e38264 p. digitalISSN:- 1932-6203
- Animals
- Biopsy
- Case-Control Studies
- Child
- Child, Preschool
- Eukaryotic Initiation Factor-2B -- genetics
- Female
- Fibroblasts -- metabolism
- Gene Expression Profiling
- Gene Expression Regulation
- Glial Fibrillary Acidic Protein -- genetics
- Hereditary Central Nervous System Demyelinating Diseases -- genetics
- Humans
- Infant
- Male
- Mutation
- Myelin Sheath -- chemistry
- Oligonucleotide Array Sequence Analysis
- Phenotype
- RNA, Messenger -- metabolism
- Transcription, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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