ABCA4 p.Arg943Glu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 23882696
[PubMed]
Ritter M et al: "Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging."
No.
Sentence
Comment
104
* Linked to c.2828G>A (p.Arg943Glu).
X
ABCA4 p.Arg943Glu 23882696:104:25
status: NEW197 [2588G>C; 2828G>A] p.[Gly863Ala; Arg943Glu]; II: c.5714&#fe;5G>A; III: c.5882G>A p.Gly1961Glu) or severe (c.
X
ABCA4 p.Arg943Glu 23882696:197:33
status: NEW