Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain-Reference-Cited by-同舟云学术

Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain

Published:2020-02-17 Issue:5 Volume:97 Page:758-763
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Sánchez‐Monteagudo Ana¹²,Álvarez‐Sauco María³,Sastre Isabel⁴,Martínez‐Torres Irene⁴,Lupo Vincenzo¹²,Berenguer Marina²⁵⁶,Espinós Carmen¹²^ORCID

Affiliation:

1. Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative DisordersCentro de Investigación Príncipe Felipe (CIPF) Valencia Spain

2. Rare Diseases Joint UnitCIPF‐IIS La Fe Valencia Spain

3. Department of NeurologyHospital General Universitari d'Elx Alicante Spain

4. Department of NeurologyHospital Universitari i Politècnic La Fe Valencia Spain

5. Hepatology – Liver Transplantation UnitDigestive Medicine Service, IIS La Fe and CIBER‐EHD, Hospital Universitari i Politècnic La Fe Valencia Spain

6. Department of MedicineUniversitat de València Valencia Spain

Funder

Generalitat Valenciana

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13719

Reference10 articles.

1. A genetic study of Wilson’s disease in the United Kingdom

2. High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

3. Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

4. RNA Analysis of Consensus Sequence Splicing Mutations: Implications for the Diagnosis of Wilson Disease

5. Diagnostic Value of Quantitative Hepatic Copper Determination in Patients With Wilson’s Disease

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