Volume 60, Issue 2, Pages 480-483 (August 2001) COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome1 Mark Buzza, Yan Yan Wang, Hayat Dagher, Jeffrey J. Babon, Richard G. Cotton, Harley Powell, John Dowling, Judy Savige Kidney International Volume 60, Issue 2, Pages 480-483 (August 2001) DOI: 10.1046/j.1523-1755.2001.060002480.x Copyright © 2001 International Society of Nephrology Terms and Conditions
Figure 1 Family tree showing that hematuria segregated with the COL4A3/COL4A4 locus (P = 0.031; A) but not with the COL4A5 locus (B). Kidney International 2001 60, 480-483DOI: (10.1046/j.1523-1755.2001.060002480.x) Copyright © 2001 International Society of Nephrology Terms and Conditions
Figure 2 Sequence showing the 4337 C-T mutation in the index case. Kidney International 2001 60, 480-483DOI: (10.1046/j.1523-1755.2001.060002480.x) Copyright © 2001 International Society of Nephrology Terms and Conditions