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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

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.[1]

References

  1. De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. Renieri, A., Seri, M., Myers, J.C., Pihlajaniemi, T., Massella, L., Rizzoni, G., De Marchi, M. Hum. Mol. Genet. (1992) [Pubmed]
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