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

Journal

Ophthalmology

Publisher

Elsevier BV

Publication Date

10/2019

Volume

126

Pages

1410 - 1421

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