[1]
|
J. S. Rahi, “Childhood Blindness: A UK Epidemiological Perspective,” Eye (Lond), Vol. 21, 2007, pp. 1249-1253.
doi:10.1038/sj.eye.6702837
|
[2]
|
D. Girelli, R. Corrocher, D. Bisceglia, et al., “Molecular Basis for the Recently Described Hereditary Hyperfer-ritinemia-Cataract Syndrome: A Mutation in the Iron- Responsive Element of Ferritin L-Subunit Gene (the ‘Verona Mutation’)," Blood, Vol. 86, 1995, pp. 4050- 4053.
|
[3]
|
C. Beaumont, P. Leneuve, I. Devaux, et al., “Mu-tation in the Iron Responsive Element of the L Ferritin mRNA in a Family with Dominant Hyperferritinaemia and Cataract,” Nature Genetics, Vol. 11, 1995, pp. 444-446.
doi:10.1038/ng1295-444
|
[4]
|
D. Bonneau, I. Winter-Fuseau, M. N. Loiseau, et al., “Bilateral Cataract and High Serum Ferritin: A New Domi- nant Genetic Disorder?” Journal of Medical Genetics, Vol. 32, No. 10, 1995, pp. 778-779.
doi:10.1136/jmg.32.10.778
|
[5]
|
V. Vanita, J. F. Hejtmancik, H. C. Hennies, et al., “Sutural Cataract Associated with a Mutation in the Ferritin Light Chain Gene (FTL) in a Family of Indian Origin,” Molecular Vision, Vol. 21, 2006, pp. 93-99.
|
[6]
|
C. Camaschella, E. Poggiali, “Towards Explaining ‘Unexplained Hyperferritinemia’,” Haematologica, Vol. 94, No. 3, 2009, pp. 307-309.
doi:10.3324/haematol.2008.005405
|
[7]
|
N. Freixenet, M. S. Moreno-Rosel, M. J. Barceló, et al., “Detection of Hereditary Hemochromatosis and Biochemical Iron-Overload in Primary Care: A Multicenter Case-Finding Study in Spain,” American Journal of Hematology, Vol. 85, No. 4, 2010, pp. 294-296.
doi:10.1002/ajh.21634
|
[8]
|
K. J. Hintze and E. C. Theil, “Cellular Regulation and Molecular Interactions of the Ferritins,” Cellular and Molecular Life Sciences, Vol. 63, No. 5, 2006, pp. 591- 600. doi:10.1007/s00018-005-5285-y
|
[9]
|
M. Cazzola, G. Bergamaschi, L. Tonon, et al. “Hereditary Hyperferritinemia-Cataract Syndrome: Relationship between Phenotypes and Specific Mutations in the Iron- Responsive Element of Ferritin Light-Chain mRNA,” Blood, Vol. 90, No. 2, 1997, pp. 814-821.
|
[10]
|
G. Milloning, M. U. Muckenthaler and S. Mueller, “Hyperferritinaemia-Cataract Syndrome: Worldwide Mutations and Phenotype of an Increasingly Diagnosed Genetic Disorder,” Human Genomics, Vol. 4, No. 4, 2010, pp. 250-262.
|
[11]
|
C. Kannengiesser, A. M. Jouanolle, G. Hetter, et al., “A New Missense Mutation in the L Ferritin Coding Sequence Associated with Elevated Levels of Glyscosylated Ferritin in Serum and Absence of Iron Overload,” Haematologica, Vol. 94, No. 3, 2009, pp. 335-339.
doi:10.3324/haematol.2008.000125
|
[12]
|
J. A. García Erce, T. Cortés, L. Cremonesi, et al., “Hiperferritinemia Familiar y Cataratas Congenitas Aso- ciadas a Mutación del Gen HFE. Dos Nuevas Familias Espa?olas y una Nueva Mutación (A37T: ‘Zaragoza’),” Medicina Clínica (Barc), Vol. 127, No. 2, 2006, pp. 55- 58.
|