Coexistence of thin membrane and Alport nephropathies in families with haematuria
Moghal NE, Milford DV, White RH et al. Coexistence of thin membrane and Alport nephropathies in families with haematuria. Pediatr Nephrol 1999; 13: 778-781.
Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4)
Jefferson JA, Lemmink HH, Hughes AE et al. Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 1997; 12: 1595-1599.
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
Heidet L, Arrondel C, Forestier L et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol 2001; 12: 97-106.
COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome
Longo I, Porcedda P, Mari F et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 2002; 61: 1947-1956.
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
Lemmink HH, Nillesen WN, Mochizuki T et al. Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest 1996; 98: 1114-1118.
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
Malone AF, Phelan PJ, Hall G et al. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int 2014; 86: 1253-1259.