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[Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family].

Zhonghua yi xue za zhi - 26 Feb 2008

Hou Ping, Lü Ji-Cheng, Chen Yu-Qing, Ding Jia-Xiang, Li Guang-Tao, Zhang Hong

Abstract excerpt

OBJECTIVE: To explore the gene diagnostic method for autosomal recessive Alport syndrome (AR-AS). METHODS: Genomic DNA was extracted from the peripheral leukocytes of the proband of an AR-AS family. All the exons of COL4A3 and COL4A4 introns were amplified by PCR, and then the PCR products were sequenced by direct sequencing. Meanwhile, the mRNA of the coding region of type IV collagen alpha3 and alpha4 chain was...

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PMID: 18649777

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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