Literature DB >> 9352458

Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.

A Czlonkowska, M Rodo, J Gajda, H K Ploos van Amstel, J Juyn, R H Houwen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9352458     DOI： 10.1007/s004150050149

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  9 in total

Review 1.  Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

Authors:  Jeong Kee Seo
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2012-12-31

2.  Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.

Authors:  Sandeep Kumar; Baburam Thapa; Gurjit Kaur; Rajendra Prasad
Journal:  Mol Cell Biochem       Date:  2006-12-08       Impact factor: 3.396

Review 3.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

4.  Fine motor skills disorders in the course of Wilson's disease.

Authors:  Peter Albrecht Günther; Hans-Juergen Kühn; Thomas Villmann; Wieland Hermann
Journal:  Ann Indian Acad Neurol       Date:  2009-01       Impact factor: 1.383

Review 5.  Wilson disease.

Authors:  Cord Langner; Helmut Denk
Journal:  Virchows Arch       Date:  2004-06-17       Impact factor: 4.064

6.  Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

Authors:  Xiao-Qing Liu; Ya-Fen Zhang; Tze-Tze Liu; Kwang-Jen Hsiao; Jian-Ming Zhang; Xue-Fan Gu; Ke-Rong Bao; Li-Hua Yu; Mei-Xian Wang
Journal:  World J Gastroenterol       Date:  2004-02-15       Impact factor: 5.742

7.  Genetic variants in diseases of the extrapyramidal system.

Authors:  Anna Oczkowska; Wojciech Kozubski; Margarita Lianeri; Jolanta Dorszewska
Journal:  Curr Genomics       Date:  2014-02       Impact factor: 2.236

8.  Chemosensitivity of U251 Cells to the Co-treatment of D-Penicillamine and Copper: Possible Implications on Wilson Disease Patients.

Authors:  Meghri Katerji; Kassem Barada; Mustapha Jomaa; Firas Kobeissy; Ahmad-Kareem Makkawi; Wassim Abou-Kheir; Julnar Usta
Journal:  Front Mol Neurosci       Date:  2017-01-31       Impact factor: 5.639

9.  Apolipoprotein E deletion has no effect on copper-induced oxidative stress in the mice brain.

Authors:  Yuan Chen; Liang Wang; Jiang-Hui Geng; Hui-Feng Zhang; Li Guo
Journal:  Biosci Rep       Date:  2018-09-07       Impact factor: 3.840
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.