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Article

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

9 Mar 2017

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28275241
DOI: 10.1038/jhg.2017.28

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Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosisPMID 28275241Read ↗

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

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Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.Semantic proximity Read ↗

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Alport syndrome with diffuse leiomyomatosis. When and when not?Semantic proximity Read ↗

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.Semantic proximity Read ↗

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis.Semantic proximity Read ↗

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