Hereditary hyperferritinemia-cataract syndrome: Study of a new family in Spain Síndrome hereditario de hiperferritinemia y cataratas: Descripción de una nueva familia en España
The hyperferritinemia-cataract syndrome, inherited as a Mendelian dominant trait, is due to mutations in the 5’ non-coding region of the ferritin light chain gene that modifies the shape of the IRE (iron responsive element) region, which loses its normal function of regulating the synthesi...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Aran Ediciones
2004-07-01
|
| Series: | Revista Espanola de Enfermedades Digestivas |
| Subjects: | |
| Online Access: | http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082004000700008 |