A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome

作者:Mattila Roosa Maria; Sainio Annele; Jarvelainen Marketta; Pursiheimo Juha; Jarvelainen Hannu
来源:Acta Ophthalmologica, 2018, 96(1): 95-99.
DOI:10.1111/aos.13492