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Erratum to: Identification of novel mutations inMLC1responsible for megalencephalic leukoencephalopathy with subcortical cysts

✍ Scribed by P. Leegwater; P. Boor; B. Yuan; J. van der Steen; A. Visser; A. Könst; C. Oudejans; R. Schutgens; J. Pronk; M. van der Knaap


Publisher
Springer
Year
2002
Tongue
English
Weight
10 KB
Volume
111
Category
Article
ISSN
0340-6717

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Vacuolating megalencephalic leukoencepha
✍ Giorgia Montagna; Oscar Teijido; Eleonore Eymard-Pierre; Koutarou Muraki; Bruce 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 344 KB

Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.A