MOLECULAR AND STRUCTURAL ANALYSIS OF SIX NONSENSE MUTATIONS IN MUT METHYLMALONIC ACIDEMIA PATIENTS INCLUDING TWO NOVEL NONSENSE MUTATIONS

被引:0
|
作者
Dundar, H. [1 ]
Ozgul, R. K. [1 ]
Unal, O. [1 ]
Karaca, M. [2 ]
Aydin, H., I [3 ]
Tokatli, A. [1 ]
Sivri, H. S. [1 ]
Coskun, T. [1 ]
Dursun, A. [1 ]
机构
[1] Hacettepe Univ, Metab Uni, Dept Ped, Ankara, Turkey
[2] Aksaray Univ, Dept Biol, Aksaray, Turkey
[3] GATA, Metab Unit, Ankara, Turkey
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:S177 / S177
页数:1
相关论文
共 50 条
  • [41] Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene
    Luo, Xiao-Yan
    Li, Qiu
    Tan, Qi
    Yang, Huan
    Xiang, Juan
    Miao, Jing-Kun
    Wang, Hua
    JOURNAL OF DERMATOLOGY, 2016, 43 (07): : 804 - 807
  • [42] Identification and Functional Characterization of Two Novel Nonsense Mutations in the β- Subunit of INSR That Cause Severe Insulin Resistance Syndrome
    Cho, Jin-Ho
    Kang, Minji
    Kim, Ja Hye
    Cho, Jahyang
    Kim, Gu-Hwan
    Yoo, Han-Wook
    HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 (02): : 73 - 78
  • [43] Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy
    Kazuki Kuniyoshi
    Kazuho Ikeo
    Hiroyuki Sakuramoto
    Masaaki Furuno
    Kazutoshi Yoshitake
    Yoshikazu Hatsukawa
    Akira Nakao
    Kazushige Tsunoda
    Shunji Kusaka
    Yoshikazu Shimomura
    Takeshi Iwata
    Documenta Ophthalmologica, 2015, 130 : 49 - 55
  • [44] The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations
    Zamani, Gholamreza
    Bereshneh, Ali Hosseini
    Malamiri, Reza Azizi
    Bagheri, Sayna
    Moradi, Kamyar
    Ashrafi, Mahmoud Reza
    Tavasoli, Ali Reza
    Mohammadi, Mahmoud
    Badv, Reza Shervin
    Akbari, Masood Ghahvechi
    Heidari, Morteza
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2020, 70 (10) : 1565 - 1573
  • [45] Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy
    Kuniyoshi, Kazuki
    Ikeo, Kazuho
    Sakuramoto, Hiroyuki
    Furuno, Masaaki
    Yoshitake, Kazutoshi
    Hatsukawa, Yoshikazu
    Nakao, Akira
    Tsunoda, Kazushige
    Kusaka, Shunji
    Shimomura, Yoshikazu
    Iwata, Takeshi
    DOCUMENTA OPHTHALMOLOGICA, 2015, 130 (01) : 49 - 55
  • [46] The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations
    Gholamreza Zamani
    Ali Hosseini Bereshneh
    Reza Azizi Malamiri
    Sayna Bagheri
    Kamyar Moradi
    Mahmoud Reza Ashrafi
    Ali Reza Tavasoli
    Mahmoud Mohammadi
    Reza Shervin Badv
    Masood Ghahvechi Akbari
    Morteza Heidari
    Journal of Molecular Neuroscience, 2020, 70 : 1565 - 1573
  • [47] Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients
    YANG Shuzhi CAO Juyang ZHANG Ruining LIU Lixian LIU Xin ZHANG Xin KANG Dongyang LI Mei HAN Dongyi YUAN Huijun YANG Weiyan Department of Otolaryngology Head and Neck SurgeryFirst Affdiated Hospital to Chinese General Hospital of PLABeijing Yang SZInstitute of OtolaryngologyChinese General Hospital of PLABeijing China Cao JY Liu LX Liu X Zhang X Kang DY Li M Han DY Yuan HJ Yang WYDepartment of Otolaryngology Head and Neck SurgeryCentral HospitalYuncheng China Zhang RN
    ChineseMedicalJournal, 2007, 120 (01) : 46 - 49
  • [48] Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients
    Yang Shu-zhi
    Cao Ju-yang
    Zhang Rui-ning
    Liu Li-xian
    Liu Xin
    Zhang Xin
    Kang Dong-yang
    Li Mei
    Han Dong-yi
    Yuan Hui-jun
    Yang Wei-yan
    CHINESE MEDICAL JOURNAL, 2007, 120 (01) : 46 - 49
  • [49] Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients
    YANG Shu-zhi CAO Ju-yang ZHANG Rui-ning LIU Li-xian LIU Xin ZHANG Xin KANG Dong-yang LI Mei HAN Dong-yi YUAN Hui-jun YANG Wei-yan Department of Otolaryngology Head and Neck Surgery
    中华医学杂志(英文版), 2007, (01) : 46 - 49
  • [50] Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis
    Li, M.
    Liang, J. Y.
    Sun, Z. H.
    Zhang, H.
    Yao, Z. R.
    GENETICS AND MOLECULAR RESEARCH, 2012, 11 (03) : 2156 - 2162