Article
Novel mutations of the MLC1 gene in Turkish patients.
European journal of medical genetics - 1 Jan 2000
Yüzbaşioğlu Ayşe, Topçu Meral, Cetin Kocaefe Y, Ozgüç Meral
Abstract excerpt
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a rare autosomal recessive disease presenting with increased head circumference at birth or in early infancy. MLC1 (MIM 605908) mutations are responsible for this disorder. In this study, we sequenced the entire coding region of the MLC1 gene in 13 patients and detected five novel nucleotide variations in six of them. Two of the novel variations...
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