Hereditary hyperferritinaemia cataract syndromeBOWES, Oliver; BAXTER, Kim; ELSEY, Terry et al.Lancet (British edition). 2014, Vol 383, Num 9927, issn 0140-6736, p. 1520Article

The hereditary hyperferritinemia-cataract syndrome: a family studyALVAREZ-COCA-GONZALEZ, Javier; MORENO-CARRALERO, Maria-Isabel; MARTINEZ-PEREZ, Jorge et al.European journal of pediatrics. 2010, Vol 169, Num 12, pp 1553-1555, issn 0340-6199, 3 p.Article

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High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain geneCASTIGLIONI, Emanuela; SORIANI, Nadia; GIRELLI, Domenico et al.Clinical chemistry and laboratory medicine. 2010, Vol 48, Num 10, pp 1415-1418, issn 1434-6621, 4 p.Article

Recent advance in molecular iron metabolism: Translational disorders of ferritin : Progress in Hematology: Recent Advance in Molecular Iron MetabolismKATO, Junji; NIITSU, Yoshiro.International journal of hematology. 2002, Vol 76, Num 3, pp 208-212, issn 0925-5710, 5 p.Article

Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridizationGASPARINI, P; CALVANO, S; MEMEO, E et al.Annales de génétique (Paris). 1997, Vol 40, Num 4, pp 227-228, issn 0003-3995Conference Paper

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