ATP7B variant spectrum in a French pediatric Wilson disease cohort-Reference-Cited by-同舟云学术

ATP7B variant spectrum in a French pediatric Wilson disease cohort

Published:2021-10 Issue:10 Volume:64 Page:104305
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Couchonnal Eduardo^ORCID,Bouchard Sophie,Sandahl Thomas Damgaard^ORCID,Pagan Cecile,Lion-François Laurence,Guillaud Olivier,Habes Dalila,Debray Dominique^ORCID,Lamireau Thierry,Broué Pierre,Fabre Alexandre,Vanlemmens Claire,Sobesky Rodolphe,Gottrand Frederic,Bridoux-Henno Laure,Belmalih Abdelouahed,Poujois Aurelia^ORCID,Brunet Anne Sophie,Lachaux Alain^ORCID,Bost Muriel

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference24 articles.

1. Long-term outcomes of patients with Wilson disease in a large Austrian cohort;Beinhardt;Clin. Gastroenterol. Hepatol.,2014

2. Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis;Bost;J. Trace Elem. Med. Biol.,2012

3. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease;Cheng;Clin. Genet.,2017

4. A genetic study of Wilson's disease in the United Kingdom;Coffey;Brain,2013

5. High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence;Collet;BMC Med. Genet.,2018

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1. The mutation spectrum and ethnic distribution of Wilson disease, a review;Molecular Genetics and Metabolism Reports;2024-03

2. Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions;International Journal of Molecular Sciences;2024-02-18

3. Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case report;2023-01-11

4. Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests;Diagnostics;2023-01-10

5. Clinical and Genetic Analysis in Neurological Wilson’s Disease Patients With Neurological Worsening Following Chelator Therapy;Frontiers in Genetics;2022-04-04