Associated Papers
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J et al.
Orphanet Journal of Rare Diseases, 2018
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
A novel IGnT allele responsible for the adult i phenotype.
Lin M et al.
Transfusion, 2006
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Pras E et al.
Investigative Ophthalmology & Visual Science, 2004
A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression.
Inaba N et al.
Blood, 2003
The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.
Yu LC et al.
Blood, 2003
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