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Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing

1 Nov 1999

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 10561141
DOI: 10.1016/s0272-6386(99)70042-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencingPMID 10561141Read ↗

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.Semantic proximity Read ↗

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndromeSemantic proximity Read ↗

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.Semantic proximity Read ↗

mRNA Analysis Identifies deep Intronic Splicing Variants Leading to Alport Syndrome and Overcomes the Problem of Negative Results of Exome SequencingSemantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

Detection of mutations in COL4A5 in patients with Alport syndrome.Semantic proximity Read ↗

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.Semantic proximity Read ↗

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.Semantic proximity Read ↗

X-linked Alport syndrome caused by splicing mutations in COL4A5.Semantic proximity Read ↗

Use of psoralen-coupled nucleotide primers for screening of COL4A5 mutations in Alport syndrome.Semantic proximity Read ↗

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.Semantic proximity Read ↗

Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.Semantic proximity Read ↗

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