A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

Doğan, Hasan; Akdemir, Fatih; Tasdemir, Sener; Atis, Omer; Balkan, Eda; Yildirim, Rahşan; Emet, Mücahit; Ikbal, Mevlit

doi:10.1186/1471-2350-15-74

Makale Tam Makale Uluslararası 2014

A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

Hasan Doğan, Fatih Akdemir, Sener Tasdemir, Omer Atis, Eda Balkan, Rahşan Yildirim, Mücahit Emet, Mevlit Ikbal

BMC medical genetics Cilt 15 · ss. 74 · 01.07.2014

DOI ile aç

Özet

Background: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date.

Anahtar kelimeler

FMF novel mutation MEFV DNA sequencing Exon 2 Exon 10

Atıf için künye

Doğan, H., Akdemir, F., Tasdemir, S., Atis, O., Balkan, E., Yildirim, R., Emet, M., & Ikbal, M. (2014). A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever. BMC medical genetics, 15, 74. https://doi.org/10.1186/1471-2350-15-74

BibTeX

@article{dogan2014-235714,
  author = {Doğan, Hasan and Akdemir, Fatih and Tasdemir, Sener and Atis, Omer and Balkan, Eda and Yildirim, Rahşan and Emet, Mücahit and Ikbal, Mevlit},
  title = {A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.},
  journal = {BMC medical genetics},
  year = {2014},
  volume = {15},
  pages = {74},
  issn = {1471-2350},
  doi = {10.1186/1471-2350-15-74},
  url = {https://akademik.atauni.edu.tr/yayinlar/235714-a-novel-insertion-mutation-identified-in-exon-10-of-the-mefv-gene-associated}
}