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Article

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

14 Dec 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21380622
DOI: 10.1007/s00467-010-1693-9

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Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2PMID 21380622Read ↗

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

LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse LeiomyomatosisSemantic proximity Read ↗

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

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

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

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Leiomyoma: genetics, assisted reproduction, pregnancy and therapeutic advancesSemantic proximity Read ↗

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome11See Editorial by Monnens, p. 799Semantic proximity Read ↗

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.Semantic proximity Read ↗

COL4A1 gene mutation--beyond a vascular syndrome.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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