Associated Papers
Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.
Cheong SS et al.
Human Genome Variation, 2017
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
Irum B et al.
Plos One, 2016
Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis.
Yu LC et al.
Current Opinion in Hematology, 2011
Hematologic biomarkers in childhood cataracts.
Wussuki-Lior O et al.
Molecular Vision, 2011
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Vajsar J et al.
Neuromuscular Disorders : Nmd, 2006
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