The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3-Reference-Cited by-同舟云学术

The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3

Published:2021-11-11 Issue:12 Volume:35 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Lu Jinfang¹,Li Huanzheng²,Zhang He³,Lin Zhengxiu⁴,Xu Chenyang²,Xu Xueqin²,Hu Lin⁵,Luan Zhaotang⁵,Lou Yongliang¹,Tang Shaohua²⁵^ORCID

Affiliation:

1. Wenzhou Key Laboratory of Sanitary Microbiology Key Laboratory of Laboratory Medicine Ministry of Education, China School of Laboratory Medicine and Life Sciences Wenzhou Medical University Wenzhou China

2. Key Laboratory of Birth Defects Department of Genetics Wenzhou Central Hospital Wenzhou China

3. Zhejiang Provincial Key Laboratory for Subtropical Water Environment and Marine Biological Resources Protection College of Life and Environmental Sciences Wenzhou University Wenzhou China

4. The Second Affiliated Hospital and Yuying Children's Hospital of WMU School of the Second Clinical Medical Sciences Wenzhou Medical University Wenzhou China

5. Key Laboratory of Medical Genetic School of Laboratory Medicine and Life Science Wenzhou Medical University Wenzhou China

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.24089

Reference41 articles.

1. Arthrogryposis: A Review and Update

2. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

3. Distal Arthrogryposis and Lethal Congenital Contracture Syndrome – An Overview

4. A mutation of beta‐tropomyosin gene in a Chinese family with distal arthrogryposis type I;Jin JY;Int J Clin Exp Pathol,2017

5. MYBPC1, an emerging myopathic gene: what we know and what we need to learn;Janelle G;Front Physiol,2016