Associated Papers
Bilateral congenital membranous cataracts due to Glucosaminyl (N-Acetyl) Transferase 2 (GCNT2) mutation: Life-saving genetic analysis.
Ganatra S et al.
Indian Journal of Ophthalmology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
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
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
Select a paper to view details