Gene: [17p1/CTNS] lysosomal cystine transport protein?; cystinosis, nephropathic;
|
REF |
LIN,LOC "Jean G &: AJHG, 58, N3, 535-543, 1996 LIN,LOC "McDowell GA &: Nature Genet, 10, N2, 246-248, 1995 PAT "Williams BLH &: Am J Med Genet, 49, N1, 83-87, 1994 PAT,TER "Yudkoff M &: New Engl J Med, 304, 141-145, 1981 |
|
KEY |
ren, aac, lys, trp |
|
CLA |
unknown, basic |
|
LOC |
17 p1 |
|
MIM |
MIM: 219800 |
