Alport syndrome caused by a 5′ deletion within the COL4A5 gene

descriptionPublicationkeyboard_double_arrow_right Article 01 Apr 1992 Italy English Publisher:Springer Science and Business Media LLCJournal:Human Genetics, volume 89, pages 120-121 (issn: 0340-6717, eissn: 1432-1203,

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Authors: RENIERI A.; SERI M.; MYERS JC; PIHLAJANIEMI T.; SESSA A.; RIZZONI G.; DE MARCHI, Mario;

doi: 10.1007/bf00207059

pmid: 1577459

handle: 11365/7405 , 2318/30274

Alport syndrome caused by a 5′ deletion within the COL4A5 gene

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Abstract

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

Country

Italy

Related Organizations

University of Pennsylvania
United States
University of Siena
Italy
University of Turin
Italy
Oulu University Hospital
Finland
University of Oulu
Finland

Keywords

Male, Blotting, Southern, Alport Syndrome; COL4A5 gene; mutation analysis, Humans, Nephritis, Hereditary, Collagen, Chromosome Deletion, DNA Probes

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