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A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

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A Türkyılmaz
Department of Medical Genetics, Marmara University School of Medicineİstanbul, Turkey
O Ünver
Department of Pediatric Neurology, Marmara University School of Medicineİstanbul, Turkey
G Ekinci
Department of Neuroradiology, Marmara University School of Medicineİstanbul, Turkey
D Türkdoğan
Department of Pediatric Neurology, Marmara University School of Medicineİstanbul, Turkey
eISSN:
1311-0160
Langue:
Anglais
Périodicité:
2 fois par an
Sujets de la revue:
Medicine, Basic Medical Science, other