Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Taylor RL., Poulter JA., Downes SM., McKibbin M., Khan KN., Inglehearn CF., Webster AR., Hardcastle AJ., Michaelides M., Bishop PN., Clark SJ., Black GC., Black G., Hall G., Ingram S., Taylor R., Manson F., Sergouniotis P., Webster A., Hardcastle A., Michaelides M., Plagnol V., Pontikos N., Cheetham M., Arno G., Fiorentino A., Inglehearn C., Toomes C., Ali M., McKibbin M., Smith C., Khan K., Downes S., Yu J., Halford S., Broadgate S., van Heyningen V.

DOI

10.1016/j.ophtha.2019.03.013

Type

Journal article

Publisher

Elsevier BV

Publication Date

2019-10-01T00:00:00+00:00

Volume

126

Pages

1410 - 1421

Total pages

11

Permalink More information Close