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The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
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The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet. 2007 Oct 15; 16(20):2411-22.
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PubMed
subject areas
Adolescent
Adult
Aged
Animals
Arginine
Child
DNA Mutational Analysis
Extracellular Matrix Proteins
Female
Humans
Macular Degeneration
Male
Mice
Mice, Inbred C57BL
Mice, Transgenic
Middle Aged
Pedigree
Point Mutation
Tryptophan
authors with profiles
Eric Adam Pierce, M.D., Ph.D.