Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study


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Charbit-Henrion F., Parlato M., Hanein S., Duclaux-Loras R., Nowak J., Begue B., ...Daha Fazla

JOURNAL OF CROHNS & COLITIS, cilt.12, sa.9, ss.1104-1112, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Konu: 9
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1093/ecco-jcc/jjy068
  • Dergi Adı: JOURNAL OF CROHNS & COLITIS
  • Sayfa Sayıları: ss.1104-1112

Özet

Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.