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Article

Splice-mediated insertion of an <i>Alu</i> sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome

1 Jan 1995

Abstract excerpt

Alport syndrome is a mainly X-linked hereditary disease of basement membranes characterized by progressive renal failure, deafness, and ocular lesions. The alpha 3(IV) and alpha 4(IV) collagen genes have been recently shown to be involved in the less frequent autosomal recessive form. When screening lymphocyte COL4A3 mRNAs from Alport patients, we found a mutant whose transcripts were disrupted by a 74 bp...

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Identifiers

PMID: 7633417
DOI: 10.1093/hmg/4.4.675

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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.

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Splice-mediated insertion of an <i>Alu</i> sequence in the COL4A3 mRNA causing autosomal recessive Alport syndromePMID 7633417Read ↗

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