DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders.

作者: Syed H. Shabbir

DOI: 10.1177/0883073815592221

关键词:

摘要: Nucleotide excision repair disorders display a wide range of clinical syndromes and presentations, all associated at the molecular level by dysfunction genes participating in nucleotide pathway. Genotype-phenotype relationships are remarkably complex not well understood. This article outlines neurodegenerative symptoms seen explores role that can play pathogenesis chronic diseases.

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