Acatalasia
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Title: Acatalasia

Essay Details:

Subject: Science
Author: David T
Date: June 12, 2015
Level: University
Grade: A
Length: 7 / 1846

Essay text:

In mouse, catalase is not syntenic to the beta-globin cluster or to LDH-A. Junien et al. (1980) investigated catalase gene dosage effects in a case of 11p13 deletion, a case of trisomy of all of 11p except 11p13, and a case of trisomy 11p13. The results were consistent with assignment of the catalase locus to 11p13 and its linkage with the WAGR complex (194070). Assay of catalase activity should be useful in identifying those cases of presumed new mutation aniridia that have a risk of Wilms tumor or gonadoblastoma, even in the absence of visible chromosomal deletion. In karyotypically normal patients with aniridia, Wilms tumor, or the combination of the two, Ferrell and Riccardi (1981) found normal catalase levels...

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