A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for dupl
✦ LIBER ✦
PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease – case report
✍ Scribed by Mądry, Jacek; Hoffman-Zacharska, Dorota; Królicki, Leszek; Jakuciński, Maciej; Friedman, Andrzej
- Book ID
- 123308139
- Publisher
- Termedia Publishing House
- Year
- 2010
- Tongue
- Polish
- Weight
- 757 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0028-3843
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