PMID: 25375877

Marsiglia M, Lee W, Mahajan VB, Zernant J, Delori FC, Tsang SH, Sparrow JR
Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.
JAMA Ophthalmol. 2015 Feb;133(2):219-20. doi: 10.1001/jamaophthalmol.2014.4507., [PubMed]
Sentences
No. Mutations Sentence Comment
7 ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 25375877:7:160
status: NEW
view ABCA4 p.Glu471Lys details
 He had previously been clinically diagnosed as having STGD1 and ge- neticscreeningwithanABCA4arrayhadrevealedasinglecopy of an ABCA4 gene variant (rs1800548, p.E471K). Login to comment 19 ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 25375877:19:56
status: NEW
view ABCA4 p.Glu471Lys details
 Subsequent to the identification of the ABCA4 variant p.E471K by array screening, data available from the Exome Variant Server7 indicated that this allele is unlikely to be disease causing. Login to comment