Challenges in molecular diagnosis of Wilson disease-Reference-Cited by-同舟云学术

Challenges in molecular diagnosis of Wilson disease

Published:2020-02-14 Issue:4 Volume:73 Page:181-182
ISSN:0021-9746
Container-title:Journal of Clinical Pathology
language:en
Short-container-title:J Clin Pathol

Author:

Reeve Janice LV,Frayling Ian M,Twomey Patrick J

Publisher

BMJ

Subject

General Medicine,Pathology and Forensic Medicine

Reference18 articles.

1. Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory

2. Roberts NB , Taylor A , Ravinder S . Chapter 37 Vitamins and Trace Elements. In: Rifai N , Horvath AR , Wittwer CT , eds. Tietz textbook of clinical chemistry and molecular diagnostics. 6th edition. St. Louis, Missouri: Elsevier, 2018. ISBN: 978-0-323-35921-4.

3. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

4. Both α-1-antitrypsin Z phenotypes and low caeruloplasmin levels are over-represented in alcohol and nonalcoholic fatty liver disease cirrhotic patients undergoing liver transplant in Ireland;El-Rayah;Eur J Gastroenterol Hepatol,2018

5. Twomey PJ . Commentary. Clin Chem 2019;65:960.doi:10.1373/clinchem.2019.302919

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