학술논문
Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'.
Document Type
Article
Author
Source
Subject
*GENETIC disorders
*SEQUENCE analysis
*
Language
ISSN
0007-1048
Abstract
The article describes a case series where the p.(Th30Ile) mutation was identified in a cohort of French families. Topics include characterization of affected cases with ferritin light chain (FTL) exon 1 mutation, analysis of patients with unexplained hyperferritinaemia and normal transferrin saturation for the possibility of exon 1 mutations in FTL, and the need for clinicians to be aware of this novel syndrome when investigating patients with hyperritinaemia.