Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.

被引:0
|
作者
Bowl, MR [1 ]
Turner, JJO [1 ]
Nesbit, MA [1 ]
Harding, B [1 ]
Thakker, RV [1 ]
机构
[1] Univ Oxford, Nuffield Dept Clin Med, Oxford, England
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S303 / S303
页数:1
相关论文
共 50 条
  • [41] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
    Abe, Akiko
    Nakamura, Kazuyuki
    Kato, Mitsuhiro
    Numakura, Chikahiko
    Honma, Tomomi
    Seiwa, Chizuru
    Shirahata, Emi
    Itoh, Aiko
    Kishikawa, Yumiko
    Hayasaka, Kiyoshi
    JOURNAL OF HUMAN GENETICS, 2010, 55 (11) : 771 - 773
  • [42] A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
    Vitozzi, Susana
    Correa, Silvia Graciela
    Lozano, Alejandro
    Fernandez, Eduardo Jorge
    Quiroga, Rodrigo
    IMMUNOGENETICS, 2024, 76 (01) : 69 - 74
  • [43] Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism
    Furman, Aryel
    Hannoush, Zeina
    Echegoyen, Francisco Barrera
    Dumitrescu, Alexandra
    Refetoff, Samuel
    Weiss, Roy E.
    THYROID, 2021, 31 (10) : 1589 - 1591
  • [44] Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency
    Kuijper, P. H. M.
    Schellings, M. W. M.
    van de Kerkhof, D.
    Nicolaes, G. A. F.
    Reitsma, P.
    Halbertsma, F.
    Dors, N.
    HAEMOPHILIA, 2013, 19 (05) : E304 - E306
  • [45] A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1
    Zhu, Wufei
    Hu, Zhen
    Liao, Xiangyu
    Chen, Xing
    Huang, Wenrong
    Zhong, Yu
    Zeng, Zhaoyang
    IMMUNOGENETICS, 2017, 69 (10) : 643 - 651
  • [46] A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1
    Wufei Zhu
    Zhen Hu
    Xiangyu Liao
    Xing Chen
    Wenrong Huang
    Yu Zhong
    Zhaoyang Zeng
    Immunogenetics, 2017, 69 : 643 - 651
  • [47] A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
    Susana Vitozzi
    Silvia Graciela Correa
    Alejandro Lozano
    Eduardo Jorge Fernández
    Rodrigo Quiroga
    Immunogenetics, 2024, 76 : 69 - 74
  • [48] Novel mutation of the autoimmune regulator (AIRE) gene in an Argentine patient with autoimmune polyglandular syndrome type 1 (APS1)
    Bazzara, Leonardo
    Munoz, Liliana
    Nievas, Valeria
    Castro, Laura
    Ayan, Diana
    Paez, Alejandra
    Inchaurregui, Elida
    Khon, Joaquin
    Nunez, Mary
    Miras, Mirta
    HORMONE RESEARCH, 2008, 70 : 183 - 183
  • [49] Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions
    Ashoor, GG
    Greenstein, RM
    Lam, H
    Martinez-Mir, A
    Zlotogorski, A
    Christiano, AM
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2005, 40 (01) : 29 - 33
  • [50] A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans
    Zhang, Huifei
    Bi, Xiaojie
    Su, Zhengxian
    Tu, Xi
    Wang, Lizhen
    Shen, Bo
    BLOOD COAGULATION & FIBRINOLYSIS, 2018, 29 (02) : 216 - 219