Affiliation:
1. Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10666 North Torrey Pines Road, La Jolla, California 92037
Abstract
Modern techniques of molecular biology have made it possible to identify mutations in a number of different hereditary red cell enzyme defects. Most of the studies have been performed in glucose-6-phosphate dehydrogenase deficiency, where a large number of point mutations have been identified. The same mutations are encountered repeatedly, even in patients with defects that were thought, on the basis of biochemical properties of the residual enzyme, to be distinct. A beginning has been made in identifying mutations in a few other red cell enzyme defects.
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Cited by
28 articles.
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