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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...

Topics

Adolescent
Amino Acid Sequence
Exons
Humans
Male
Molecular Sequence Data
Mutation
Nephritis, Hereditary
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

RNA, Messenger

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7485125-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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

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

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.Semantic proximity Read ↗

Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.Semantic proximity Read ↗

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 ↗

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.Semantic proximity Read ↗

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.Semantic proximity Read ↗

Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.Semantic proximity Read ↗

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.Semantic proximity Read ↗

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