A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease
โ Scribed by Takehiko Matsumura; Hitoshi Osaka; Ken Inoue; Naoya Sugiyama; Hideki Onishi; Yoshiteru Yamada; Masaharu Hayashi; Kenji Kosaka
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 8 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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๐ SIMILAR VOLUMES
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
Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of