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).
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
72
References
22
Citations
NaN
KQI