Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy
Author:
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/26/12/4003/7634536/gfr184.pdf
Reference34 articles.
1. Making the diagnosis of Alport's syndrome
2. Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis
3. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome
4. A family with X‐linked Alport syndrome confirmed by skin biopsy
5. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts
Cited by 6 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. Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study;Global Pediatric Health;2024-01
2. Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review;BioMed Research International;2021-03-02
3. A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome;Current Molecular Medicine;2019-10-15
4. Genetic studies of focal segmental glomerulosclerosis: a waste of scientific time?;Pediatric Nephrology;2018-12-27
5. Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders;PLOS ONE;2016-03-02
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