ABCA4 p.Glu160*
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PMID: 25139735
[PubMed]
Lee W et al: "The external limiting membrane in early-onset Stargardt disease."
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85
Summary of Demographic, Clinical and Genetic Characteristics Patient Age, y Ethnicity BCVA Snellen, logMAR Fishman Stage FFERG Group Flecks Estimated Disease Duration, yߤ ABCA4 Disease-Associated Alleles OD OS Allele 1 Allele 2 P1 10 Caucasian 20/30 (0.18) 20/25 (0.01) 1 1 Early 1 p.E160* p.R1108C P2 10 Caucasian 20/70 (0.54) 20/80 (0.60) 2 2 Early-late 0.5 p.
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ABCA4 p.Glu160* 25139735:85:290
status: NEW