American journal of medical genetics. Part A, 2005-04, Vol.134A (1), p.77-79
2005
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Details
- Autor(en) / Beteiligte
- Titel
- Identification of a novel mutation in the L‐ferritin IRE leading to hereditary hyperferritinemia‐cataract syndrome
- Ist Teil von
- American journal of medical genetics. Part A, 2005-04, Vol.134A (1), p.77-79
- Ort / Verlag
- Hoboken: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 2005
- Quelle
- Wiley Online Library - AutoHoldings Journals
- Beschreibungen/Notizen
- The hereditary hyperferritinemia‐cataract syndrome (HHCS) is a rare autosomal dominant disorder due to mutations affecting the iron responsive element (IRE) of the L‐ferritin mRNA. We report on a new mutation, 43G > A, in the loop of the stem‐loop structure of the L‐ferritin IRE in the proband of a pedigree with early‐onset bilateral cataracts. © 2005 Wiley‐Liss, Inc.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1552-4825eISSN: 1552-4833DOI: 10.1002/ajmg.a.30425Titel-ID: cdi_proquest_miscellaneous_67545220
- Format
- –
- Schlagworte
- Base Sequence, cataract, Cataract - blood, Cataract - pathology, DNA Mutational Analysis, Female, Ferritins - blood, Ferritins - genetics, Humans, hyperferritinemia, Iron - metabolism, Iron Metabolism Disorders - blood, Iron Metabolism Disorders - genetics, Iron Metabolism Disorders - pathology, iron responsive element (IRE), Male, Middle Aged, Mutation, Pedigree, Response Elements - genetics, Syndrome