Associated Papers
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.
Vanhoye X et al.
Practical Laboratory Medicine, 2024
Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.
Schmidt J et al.
Plos One, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.
Zhong L et al.
Pediatric Rheumatology Online Journal, 2020
32398039 (PubMed )
Supplement: 12969_2020_427_MOESM3_ESM.xlsx › Healthy_controls
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
Villani AC et al.
Plos One, 2009
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
Cazeneuve C et al.
American Journal of Human Genetics, 1999
[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever].
Cazeneuve C et al.
Annales De Genetique, 1999
Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever.
Öksuz MF et al.
Revista Brasileira De Reumatologia, 0
Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
Velickovic J et al.
Autoimmunity, 0
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