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Article

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

PloS one - 1 Jan 2017

Liu Jian-Hong, Wei Xiu-Xiu, Li Ang, Cui Ying-Xia, Xia Xin-Yi, Qin Wei-Song, Zhang Ming-Chao, Gao Er-Zhi, Sun Jun, Gao Chun-Lin, Liu Feng-Xia, Wu Qiu-Yue, Li Wei-Wei, Asan, Liu Zhi-Hong, Li Xiao-Jun

Abstract excerpt

Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymerase chain reaction (PCR)-based approaches. Here, in order to design a rapid and effective method for the genetic...

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Identifiers

PMID: 28542346
DOI: 10.1371/journal.pone.0177685
PMCID: PMC5436713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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