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
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷
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
  • [21] Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP
    Casper Jansen
    Piero Parchi
    Sabina Capellari
    Ad J. Vermeij
    Patrizia Corrado
    Frank Baas
    Rosaria Strammiello
    Willem A. van Gool
    John C. van Swieten
    Annemieke J. M. Rozemuller
    Acta Neuropathologica, 2010, 119 : 189 - 197
  • [22] Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP
    Jansen, Casper
    Parchi, Piero
    Capellari, Sabina
    Vermeij, Ad J.
    Corrado, Patrizia
    Baas, Frank
    Strammiello, Rosaria
    van Gool, Willem A.
    van Swieten, John C.
    Rozemuller, Annemieke J. M.
    ACTA NEUROPATHOLOGICA, 2010, 119 (02) : 189 - 197
  • [23] Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis
    Akiyama, Masashi
    Sakai, Kaori
    Sato, Toshihiro
    McMillan, James R.
    Goto, Maki
    Sawamura, Daisuke
    Shimizu, Hiroshi
    DERMATOLOGY, 2007, 215 (02) : 155 - 159
  • [24] Status Dystonicus in Two Patients with SOX2-Anophthalmia Syndrome and Nonsense Mutations
    Gorman, Kathleen M.
    Lynch, Sally A.
    Schneider, Adele
    Grange, Dorothy K.
    Williamson, Kathleen A.
    FitzPatrick, David R.
    King, Mary D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (11) : 3048 - 3050
  • [25] Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia
    Han, Lian-Shu
    Huang, Zhuo
    Han, Feng
    Wang, Yu
    Gong, Zhu-Wen
    Gu, Xue-Fan
    WORLD JOURNAL OF PEDIATRICS, 2017, 13 (04) : 381 - 386
  • [26] Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia
    Lian-Shu Han
    Zhuo Huang
    Feng Han
    Yu Wang
    Zhu-Wen Gong
    Xue-Fan Gu
    World Journal of Pediatrics, 2017, 13 : 381 - 386
  • [27] Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis
    Anna Maria Barbieri
    Marcello Filopanti
    Guido Bua
    Paolo Beck-Peccoz
    Journal of Human Genetics, 2007, 52 : 464 - 468
  • [28] Two novel nonsense mutations in LAMB2 causing a typical form of Pierson syndrome
    Su, Baige
    Ru, Xifang
    Wang, Fang
    Liu, Shuping
    Wang, Suxia
    Ding, Jie
    Wang, Ying
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1458 - 1459
  • [29] Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China
    Han, Bingjuan
    Nie, Wenying
    Sun, Meng
    Liu, Yingxia
    Cao, Zhiyang
    PEDIATRICS AND NEONATOLOGY, 2020, 61 (02): : 148 - 154
  • [30] Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis
    Barbieri, Anna Maria
    Filopanti, Marcello
    Bua, Guido
    Beck-Peccoz, Paolo
    JOURNAL OF HUMAN GENETICS, 2007, 52 (05) : 464 - 468
12345