p. P1379S , a benign variant with reduced ATP7B protein level in Wilson Disease-Reference-Cited by-同舟云学术

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p. P1379S , a benign variant with reduced ATP7B protein level in Wilson Disease

Published:2020-05-19 Issue:1 Volume:54 Page:32-36
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Yi Fan¹,Poskanzer Sheri A.²,Myers Candace T.³,Thies Jenny⁴,Collins Christopher J.¹,Dayuha Remwilyn¹,Duong Phi¹,Houwen Roderick⁵,Hahn Si Houn¹²⁴

Affiliation:

1. Seattle Children's Research Institute Seattle Washington USA

2. Department of PediatricsUniversity of Washington, School of Medicine Seattle Washington USA

3. Department of LaboratoriesSeattle Children's Hospital Seattle Washington USA

4. Biochemical GeneticsSeattle Children's Hospital Seattle Washington USA

5. Wilhelmina Children's Hospital, Utrecht University Utrecht Netherlands

Funder

National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12127

Reference24 articles.

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

2. Wilson Disease

3. Genetics and epigenetic factors of Wilson disease

4. Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking

5. The Nonsense-Mediated Decay RNA Surveillance Pathway

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1. Re‐evaluation of the existing health‐based guidance values for copper and exposure assessment from all sources;EFSA Journal;2023-01

2. Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis;Diagnostics;2022-05-07

3. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc;Inborn Metabolic Diseases;2022

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