Article
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2012
Mitsui Jun, Matsukawa Takashi, Ishiura Hiroyuki, Higasa Koichiro, Yoshimura Jun, Saito Taro L, Ahsan Budrul, Takahashi Yuji, Goto Jun, Iwata Atsushi, Niimi Yuki, Riku Yuuichi, Goto Yoji, Mano Kazuo, Yoshida Mari, Morishita Shinichi, Tsuji Shoji
Abstract excerpt
Genetic and phenotypic heterogeneities are considerably high in adult-onset leukoencephalopathy, in which comprehensive mutational analyses of the candidate genes by conventional methods are too laborious. We applied exome sequencing to conduct a comprehensive mutational analysis of genes for autosomal dominant leukoencephalopathies. Genomic DNA samples from four patients of three families with autosomal...
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