A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonucleas
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A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease
โ Scribed by Grace M. Hobson; Deborah L. Stabley; Vicky L. Funanage; Harold G. Marks
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 66 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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