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  • Title: Aniridia: enzyme studies in an 11p--chromosomal deletion.
    Author: Bateman JB, Sparkes MC, Sparkes RS.
    Journal: Invest Ophthalmol Vis Sci; 1984 May; 25(5):612-6. PubMed ID: 6325367.
    Abstract:
    A patient with aniridia and an interstitial deletion of the bands p13-p14 of the short arm of chromosome 11 was studied to determine the relative locations of the gene(s) encoding for the aniridia-Wilms' tumor association with other genes on the same chromosome. Quantitative analysis was performed on the red blood cell enzymes lactic acid dehydrogenase-A (LDH-A) and catalase, the genes for which are located on the short arm of chromosome 11. The activity of LDH-A was normal; the activity of catalase was reduced to approximately half normal. This evidence supports loci for the genes encoding for both catalase and the aniridia-Wilms' tumor association within the bands p13-p14 of the short arm of chromosome 11; the normal activity of LDH-A supports a locus outside this region.
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