PMID: 22060670

Park SP, Chang S, Allikmets R, Smith RT, Burke TR, Gregory-Roberts E, Tsang SH
Disruption in Bruch membrane in patients with Stargardt disease.
Ophthalmic Genet. 2012 Mar;33(1):49-52. doi: 10.3109/13816810.2011.628358. Epub 2011 Nov 7., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 22060670:50:89
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.His1406Tyr
X
ABCA4 p.His1406Tyr 22060670:50:78
status: NEW
view ABCA4 p.His1406Tyr details
 Genetic screening revealed that the patient was compound heterozygous for the H1406Y and G1961E mutations in the ABCA4 gene. Login to comment