Synthesis and secondary structure of loop 4 of myelin proteolipid protein: effect of a point mutation found in Pelizaeus-Merzbacher disease
โ Scribed by Trifilieff, E.
- Book ID
- 110893898
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 458 KB
- Volume
- 66
- Category
- Article
- ISSN
- 1397-002X
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W e studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41+T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show n