Beyond the Recessive Model: A Look at Heterozygous MEFV Mutations in Familial Mediterranean Fever

被引：0
|
作者：
Vardeva, Antonia [1 ]
Ivanov, Hristo [1 ]
Burnusuzov, Hassan [1 ]
Stoyanova, Vili [1 ]
机构：
[1] Med Univ Plovdiv, Paediat & Med Genet, Plovdiv, Bulgaria
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP09.025
引用
收藏
页码：1039 / 1039
页数：1
相关论文
共 50 条
  • [1] CAN HOMOZYGOUS OR HETEROZYGOUS MEFV MUTATIONS LEAD TO DIFFERENT PRESENTATION OF FAMILIAL MEDITERRANEAN FEVER?
    Aktas, A.
    Karadavut, M.
    Cansu, D. Uskudar
    Korkmaz, C.
    ANNALS OF THE RHEUMATIC DISEASES, 2018, 77 : 1154 - 1154
  • [2] Adult Autoinflammatory Phenotypes Associated With Heterozygous MEFV Mutations: A Continuum of Familial Mediterranean Fever?
    Yao, Qingping
    ARTHRITIS AND RHEUMATISM, 2013, 65 : S512 - S512
  • [3] Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
    Lachmann, H. J.
    Sengul, B.
    Yavuzen, T. U.
    Booth, D. R.
    Booth, S. E.
    Bybee, A.
    Gallimore, J. R.
    Soyturk, M.
    Akar, S.
    Tunca, M.
    Hawkins, P. N.
    RHEUMATOLOGY, 2006, 45 (06) : 746 - 750
  • [4] Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic
    Sediva, A.
    Horvath, R.
    Manasek, V.
    Gregorova, A.
    Plevova, P.
    Horackova, M.
    Tesarova, M.
    Toplak, N.
    Debeljak, M.
    CLINICAL GENETICS, 2014, 86 (06) : 564 - 569
  • [5] Familial Mediterranean Fever, Polyarteritis Nodosa and Mefv Mutations
    Akpolat, Tekin
    Ozkaya, Ozan
    Ozen, Seza
    TURKISH NEPHROLOGY DIALYSIS AND TRANSPLANTATION JOURNAL, 2013, 22 (01): : 68 - 71
  • [6] CLUSTER OF PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND HETEROZYGOUS CARRIERS OF MUTATIONS IN MEFV GENE IN THE CZECH REPUBLIC - UPDATE
    Horvath, R.
    Sediva, A.
    Manasek, V.
    Plevelova, P.
    Horackova, M.
    Tesarova, M.
    Debeljak, M.
    ANNALS OF THE RHEUMATIC DISEASES, 2014, 73 : 1110 - 1110
  • [7] Novel Double Heterozygous Mutations in MEFV and NLRP3 Genes in a Patient With Familial Mediterranean Fever
    Timerman, Dmitriy
    Frank, Natasha Y.
    JCR-JOURNAL OF CLINICAL RHEUMATOLOGY, 2013, 19 (08) : 452 - 453
  • [8] MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study
    Caglayan, Ahmet Okay
    Demiryilmaz, Fatma
    Ozyazgan, Isilay
    Gumus, Hakan
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2010, 25 (08) : 2520 - 2523
  • [9] A case of familial Mediterranean fever with triple MEFV gene mutations
    Salehzadeh, Farhad
    Fathi, Afshin
    INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2017, 20 (11) : 1872 - 1872
  • [10] MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever
    El Gezery, Dalal A.
    Abou-Zeid, Abla A.
    Hashad, Doaa I.
    El-Sayegh, Hesham K.
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (02) : 263 - 268
12345