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Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus–Merzbacher disease

✍ Scribed by Q Gao; VC Thurston; GH Vance; SR Dlouhy; ME Hodes


Book ID
110888097
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
72 KB
Volume
68
Category
Article
ISSN
0009-9163

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Prenatal diagnosis by FISH in a family w
✍ Karen Woodward; Rodger Palmer; Kathleen Rao; Sue Malcolm 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

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