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

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