Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay-Reference-Cited by-同舟云学术

Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay

Published:2021-06-30 Issue:9 Volume:42 Page:1153-1164
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhang Ruixiao¹^ORCID,Chen Zeqing²,Song Qijing³,Wang Sai¹⁴,Liu Zhiying¹,Zhao Xiangzhong⁵,Shi Xiaomeng¹,Guo Wencong¹,Lang Yanhua¹,Bottillo Irene⁶,Shao Leping¹

Affiliation:

1. Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China

2. Academy for Engineering and Technology Fudan University Shanghai China

3. Emergency Center, People's Hospital of Jimo District Qingdao China

4. Department of Dermatology Peking University First Hospital Beijing China

5. Central Laboratory The Affiliated Hospital of Qingdao University Qingdao China

6. Division of Medical Genetics, Department of Molecular Medicine, San Camillo‐Forlanini Hospital Sapienza University Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24246

Reference34 articles.

1. Systematic mRNA analysis for the effect ofMLH1 andMSH2 missense and silent mutations on aberrant splicing

2. Listening to silence and understanding nonsense: exonic mutations that affect splicing

3. Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene

4. Exon and intron definition in pre-mRNA splicing

5. Understanding human DNA variants affecting pre-mRNA splicing in the NGS era

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