SLC19A3 Early-Infantile, Lethal Encephalopathy
نویسندگان
چکیده
منابع مشابه
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
To accomplish a diagnosis in patients with a rare unclassified disorder is difficult. In this study, we used magnetic resonance imaging pattern recognition analysis to identify patients with the same novel heritable disorder. Whole-exome sequencing was performed to discover the mutated gene. We identified seven patients sharing a previously undescribed magnetic resonance imaging pattern, charac...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2013
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-27-6-6