DOI: 10.1055/s-00000041

Neuropediatrics

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References

Leegwater PAJ, Yuan BQ, van der Steen J, Mulders J, Könst AAM, Boor PKI, Mejaski-Bosnjak V, van der Maarel S, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS.
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. 
Am J Hum Genet 2001; 68: 831-838  

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