The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet. 2007 Oct 15;16(20):2411-22.

PubMed ID: 
17666404