Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Item
http://www.wikidata.org/entity/Q33682571
Ferritin for the clinicianHepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes.Mutation analysis of the ferritin L-chain gene in age-related cataract.Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.Forging a field: the golden age of iron biology.Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome.Hyperferritinemia without iron overload in patients with bilateral cataracts: a case seriesA child with hyperferritinemia: case report.A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.
P2860

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Item
http://www.wikidata.org/entity/Q33682571
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@ast
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@en
type
label
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@ast
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@en
prefLabel
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@ast
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932