Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism-Reference-Cited by-同舟云学术

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism

Published:2023-02-13 Issue:21 Volume:136 Page:2635-2637
ISSN:0366-6999
Container-title:Chinese Medical Journal
language:en
Short-container-title:

Author:

Zhong Lijuan¹,Li Yin²,He Xiaohong¹,Dey Subrata Kumar³,Zhang Quanfu¹,Banerjee Santasree⁴

Affiliation:

1. Division of Maternal-Fetal Medicine, Affiliated Shenzhen Bao’an Women's and Children's Hospital, Jinan University, Shenzhen, Guangdong 518102, China

2. Department of Oncology, The First Affiliated Hospital of Jinan University, Jinan University, Guangzhou, Guangdong 510632, China

3. Department of Biotechnology, Centre for Genetic Studies, School of Biotechnology and Biological Sciences, Maulana Abul Kalam Azad University of Technology (Formerly West Bengal University of Technology), Kolkata, West Bengal 700064, India

4. Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun, Jilin 130021, China.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,General Medicine

Reference5 articles.

1. Alport syndrome: achieving early diagnosis and treatment;Kashtan;Am J Kidney Dis,2021

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

3. Spectrum of mutations in the COL4A5 collagen gene in X-linked AS;Knebelmann;Am J Hum Genet,1996

4. Identification of 47 novel mutations in patients with AS and thin basement membrane nephropathy;Weber;Pediatr Nephrol,2016

5. Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome;Wang;J Mol Diagn,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene;Frontiers in Pediatrics;2023-08-10