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
โฆ LIBER โฆ
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
โ Scribed by Keiko Shimojima; Toshiyuki Mano; Mitsuru Kashiwagi; Takuya Tanabe; Midori Sugawara; Nobuhiko Okamoto; Hiroshi Arai; Toshiyuki Yamamoto
- Book ID
- 116433476
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 693 KB
- Volume
- 55
- Category
- Article
- ISSN
- 1769-7212
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