Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA. [electronic resource]
Producer: 20050830Description: 697-701 p. digitalISSN:- 0306-4522
- Adult
- Blotting, Northern -- methods
- Blotting, Southern -- methods
- Brain -- pathology
- DNA Mutational Analysis -- methods
- Exons
- Fibroblasts -- metabolism
- Humans
- Longitudinal Studies
- MARVEL Domain-Containing Proteins
- Magnetic Resonance Imaging -- methods
- Male
- Membrane Proteins -- genetics
- Models, Molecular
- Pelizaeus-Merzbacher Disease -- genetics
- Point Mutation
- Proteolipids
- RNA Splicing
- RNA, Messenger -- genetics
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Publication Type: Case Reports; Journal Article
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