Search Results - "Davenport, Carol M."

Molecular Genetics of Human Blue Cone Monochromacy by Nathans, Jeremy, Davenport, Carol M., Maumenee, Irene H., Lewis, Richard Alan, Hejtmancik, J. Fielding, Litt, Michael, Lovrien, Everett, Weleber, Richard, Bachynski, Brian, Zwas, Fred, Klingaman, Roger, Fishman, Gerald

“…Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sensitivities. In 12 of 12 families…”
Get full text

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain by Sung, C H, Davenport, C M, Nathans, J

“…Over 40 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa. Twenty-one of these mutations have been…”
Get full text

Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa by Sung, Ching-Hwa, Davenport, Carol M., Hennessey, Jill C., Maumenee, Irene H., Jacobson, Samuel G., Heckenlively, John R., Nowakowski, Rodney, Fishman, Gerald, Gouras, Peter, Nathans, Jeremy

“…DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the…”
Get full text

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa : implications for the structure and function of rhodopsin by MACKE, J. P, DAVENPORT, C. M, GOURAS, P, GOOD, W, NATHANS, J, JACOBSON, S. G, HENNESSEY, J. C, GONZALEZ-FERNANDEZ, F, CONWAY, B. P, HECKENLIVELY, J, PALMER, R, MAUMENEE, I. H, SIEVING, P

“…Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects…”
Get full text