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Cloning the Gene for the Inherited Disorder Chronic Granulomatous Disease on the Basis of Its Chromosomal Location

1986; Cold Spring Harbor Laboratory Press; Volume: 51; Linguagem: Inglês

10.1101/sqb.1986.051.01.021

1943-4456

Brigitte Royer‐Pokora, Louis M. Kunkel, Anthony P. Monaco, Sabra C. Goff, Peter E. Newburger, Robert L. Baehner, Francesca Cole, J T Curnutte, Stuart H. Orkin,

Neutrophil, Myeloperoxidase and Oxidative Mechanisms

Human inherited disorders often result from mutations in genes whose protein products are unknown. In principle, gene cloning procedures may be employed to isolate and characterize such genes without reference to protein data. Subsequently, the protein encoded by a gene of this kind may be detected using antibody reagents prepared from synthetic peptides predicted by cDNA sequences or from polypeptides expressed in prokaryotic cells. In this manner, new insights into a cell biologic system may ultimately be gained through study of human disease.