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Article

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 1995

Nakazato H, Hattori S, Ushijima T, Matsuura T, Karashima S, Uemura T, Endo F, Matsuda I

Abstract excerpt

The COL4A5 gene from 40 patients with Alport's syndrome was examined using single-strand conformation substitution at the acceptor site (-2) of intron 50 and a G-to-C substitution at the donor site (+1) of intron 47, respectively. The transcript in peripheral leukocytes from the former had a 10-nucleotide deletion. This shortened transcript was derived from abnormal splicing in a cryptic acceptor site within exon...

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PMID: 7485125
DOI: 10.1016/0272-6386(95)90436-0

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

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Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.PMID 7485125Read ↗

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

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant SplicingSemantic 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 ↗

Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified VariantsSemantic proximity Read ↗

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

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