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Molecular Genetic Studies in Indian Patients With Megalencephalic Leukoencephalopathy

โœ Scribed by Pallavi Shukla; Neerja Gupta; Manju Ghosh; Suman Vasisht; Sheffali Gulati; Prahlad Balakrishnan; Raju Sharma; Arun K. Gupta; Mahesh Kamate; Veena Kalra; Madhulika Kabra


Book ID
116825912
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
470 KB
Volume
44
Category
Article
ISSN
0887-8994

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Vacuolating megalencephalic leukoencepha
โœ Giorgia Montagna; Oscar Teijido; Eleonore Eymard-Pierre; Koutarou Muraki; Bruce ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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