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Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications

✍ Scribed by S Regis; R Biancheri; E Bertini; A Burlina; S Lualdi; MG Bianco; R Devescovi; A Rossi; G Uziel; M Filocamo


Book ID
110888557
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
178 KB
Volume
73
Category
Article
ISSN
0009-9163

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✍ 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