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Article

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

Science (New York, N.Y.) - 27 Aug 1993

Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders S T

Abstract excerpt

The gene encoding alpha 6(IV) collagen, COL4A6, was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the alpha 5(IV) collagen gene, COL4A5. In earlier studies, intragenic deletions of COL4A5 were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a...

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PMID: 8356449
DOI: 10.1126/science.8356449

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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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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.PMID 8356449Read ↗

Deletions of both 5(IV) and 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumoursSemantic proximity Read ↗

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosisSemantic proximity Read ↗

Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.Semantic proximity Read ↗

Organization and expression of basement membrane collagen IV genes and their roles in human disorders.Semantic proximity Read ↗

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.Semantic proximity Read ↗

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical regionSemantic proximity Read ↗

Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients.Semantic proximity Read ↗

Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.Semantic proximity Read ↗

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Semantic proximity Read ↗

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

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Semantic proximity Read ↗

Discordant phenotypic expression of Alport syndrome in monozygotic twins.Semantic proximity Read ↗

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