Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

2016 
Background Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS).
    • Correction
    • Source
    • Cite
    • Save
    • Machine Reading By IdeaReader
    72
    References
    22
    Citations
    NaN
    KQI
    []