A New Point Mutation in the COL4A5 Gene Described in a Spanish Family with X-Linked Alport Syndrome
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S. Karger AG
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. Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome;Clinical and Experimental Nephrology;2024-04-24
2. Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome;Molecular Genetics & Genomic Medicine;2020-08-18
3. Genetic basis of hearing loss in Spanish, Hispanic and Latino populations;Gene;2018-03
4. Biomarkers for osteoarthritis: investigation, identification, and prognosis;Current Biomarker Findings;2012-06
5. Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples;American Journal of Kidney Diseases;2007-08
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