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Gianfranco Rizzoni

Casa Sollievo della Sofferenza

Publishes on Renal Diseases and Glomerulopathies, Genetic and Kidney Cyst Diseases, Renal and related cancers. 9 papers and 758 citations.

9Publications
758Total Citations

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Top publicationsby citations

<i>De novo</i> mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome
Alessandra Renieri, Marco Seri, Jeanne C. Myers et al.|Human Molecular Genetics|1992
Cited by 31

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.