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Mysterious children's neurological disease is traced to a single error in one gene

20:00 EDT 2 Aug 2017 | AAAS

(The Hebrew University of Jerusalem) A multinational research effort led by researchers in Israel has discovered the biological basis of a rare but severe neurological disorder in children. In a research paper published today, scientists describe for the first time how the children's cells are flooded with ribosomal RNA and are poisoned by it. This is the first time that an excess of ribosomal RNA has been linked to a disease in humans.

Original Article: Mysterious children's neurological disease is traced to a single error in one gene

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