Gene: [0Xq22/COL4A5] collagen, type IV, alpha 5; hereditary nephritis (Alport syndrome, X-linked; MIM:301050); diffuse esophageal leiomyomatosis with Alport syndrome (MIM:308940); [ATS ASLN ]
|
FAG |
[1] On COL4 genes, see FAM:COL4/00.0.
[2] On the multigene family of collagen protein genes, see FAM:COLL/00.0." |
|
REF |
MUT "Antignac C &: J Clin Invest, 93, N3, 1195-1207, 1994 MUT "Antignac C &: AJHG, 51, A7-7, 1992a MUT "Antignac C &: Kidney Int, 42, N5, 1178-1183, 1992b PAT,MAP,LIN "Atkin &: AJHG, 42, 249-255, 1988 PAT,LIN "Brunner H &: Kidney Int, 34, 507-510, 1988 COD,SEQ,LOC,EVO "Hostikka SL &: PNAS, 87, 1606-1610, 1990 MUT "Knebelmann B &: AJHG, 59, N6, 1221-1232, 1996 MUT "Knebelmann B &: AJHG, 51, N1, 135-142, 1992 MUT "Lemmink HH &: Hum Mol Genet, 3, 1269-1273, 1994 MUT "Zhou J &: Science, 261, 1167-1169, 1993 CLO,SEQ,STR "Zhou J &: JBC, 267, 12475-12481, 1992a MUT "Zhou J &: AJHG, 50, 1291-1300, 1992b CLO,SEQ,STR "Zhou J &: Genomics, 9, 1-9, 1991a MUT "Zhou J &: Genomics, 9, 10-18, 1991b |
|
KEY |
exce, ren, devd |
|
CLA |
coding, basic |
|
LOC |
0X q22 |
|
MIM |
MIM: 303630 |
|
SYN |
ATS ASLN |
Gene: [0Xq22/COL4A5] collagen, type IV, alpha 5;
