Knebelmann B.,1992
Knebelmann B., Deschenes G., Gros F., Hors M.C., Grunfeld J.P., Tryggvason K., Gubler M.C., Antignac C. Substitution of arginine for glycine 325 in the collagen a5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. - Am.J.Hum.Genet, 1992, v. 51, p. 135-142.