Gene: [19q133/FTL] ferritin, light polypeptide; hyperferritinemia-cataract syndrome (MIM:600886);
|
FUN |
See 11q13/FTH1[:FUN]. |
|
FAG |
See 11q13/FTH1[:FAG]. |
|
REL |
GEM:20q1/FTLL1, GEM:0Xp2/FTLL2. |
|
REF |
MUT "Aguilar-Martinez P &: Blood, 88, N5, 1895-1903, 1996 MUT "Beaumont C &: Nature Genet, 11, N4, 444-446, 1995 LOC,CYG "Caskey &: PNAS, 80, 482-486, 1983 MUT "Cazolla M &: Blood, 90, N2, 814-821, 1997 LOC "Gasparini P &: Ann Genet, 40, N4, 227-228, 1997 MUT "Girelli D &: Blood, 90, N5, 2084-2088, 1997 MUT "Girelli D &: Blood, 86, N11, 4050-4053, 1995 LOC,MOL,FAG "Lebo RV &: Hum Genet, 71, 325-328, 1985 MUT "Martin ME &: Blood, 91, N1, 319-323, 1998 LOC,MOL,FAG "McGill &: CCG, 40, (HGM8), 696-697, 1985 LOC,MOL,FAG "McGill &: AJHG, 36, 146S, 1984 MUT "Mumford AD &: Blood, 91, N1, 367-368, 1998 LOC,CYG,FAG "Worwood M &: Hum Genet, 69, 371-374, 1985 |
|
KEY |
trp, ion |
|
CLA |
coding, basic |
|
LOC |
19 q13.3 |
|
MIM |
MIM: 134790 |
