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Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam

  • Published:2022-06 Issue: Volume:31 Page:100861
  • ISSN:2214-4269
  • Container-title:Molecular Genetics and Metabolism Reports
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Huong Nguyen Thi Mai,Hoa Nguyen Pham Anh,Ngoc Ngo Diem,Mai Nguyen Thi Phuong,Yen Pham Hai,Anh Hoàng Thị Vân,Hoa Giang,Dien Tran Minh

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference70 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Heavy metal transport CPx-ATPases from the thermophile archaeoglobus fulgidus;Argüello;Ann. N. Y. Acad. Sci.,2003

3. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin;van den Berghe;Hepatology,2009

4. Distinct Wilson’s disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B;de Bie;Gastroenterology,2007

5. Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis;Bost,2012

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