Article
The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.
Blood - 15 Mar 2003
Yu Lung-Chih, Twu Yuh-Ching, Chou Ming-Lun, Reid Marion E, Gray Alan R, Moulds Joann M, Chang Ching-Yi, Lin Marie
Abstract excerpt
The human i and I antigens are characterized as linear and branched repeats of N-acetyllactosamine, respectively. Conversion of the i to the I structure requires I-branching beta-1,6-N-acetylglucosaminyltransferase activity. It has been noted that the null phenotype of I, the adult i phenotype, is associated with congenital cataracts in Asians. Previously, the identification of molecular changes in the IGnT gene,...
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