Identification of a Novel <i>COL4A5</i> Mutation in a Family with X-Linked Alport Syndrome.

<p>A. Exon 25 sequencing from a normal male individual. B. Sequencing from a heterozygous female. C. G641E is a mutation that results in 48 abnormal amino acid residues in the COL4A5 protein.</p

Pedigree of a Kazakh Family with X-Linked Alport Syndrome.

<p>Affected individuals with kidney disease are shown with blackened squares (males) and circles (females). Normal individuals are shown with empty squares (males) and circles (females). Crossed squares or circles denote deceased individuals.</p