ABCMdb

PMID: 26574798

Gaia O, Melillo P, Sirio C, D'Alterio FM, Prinster A, Testa F, Brunetti A, Simonelli F, Quarantelli M
Cerebral Involvement in Stargardt's Disease: A VBM and TBSS Study.
Invest Ophthalmol Vis Sci. 2015 Nov 1;56(12):7388-97. doi: 10.1167/iovs.15-16899., [PubMed]

Sentences

No. Mutations Sentence Comment

81 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Arg2149* ABCA4 p.Arg2149* ABCA4 p.Pro402Ala ABCA4 p.Asn96Asp ABCA4 p.Asn96Asp ABCA4 p.Asn96Asp ABCA4 p.Phe655Cys ABCA4 p.Ala1598Asp ABCA4 p.Arg152Gln ABCA4 p.Gly690Val ABCA4 p.Ser1689Pro ABCA4 p.Ala60Val ABCA4 p.Asn1436Ile ABCA4 p.Asn1436Ile ABCA4 p.Val615Ala ABCA4 p.Asp498Asn Demographic and Genetic Data of STGD Patients Age Sex ABCR Mutations Age of Onset 19 F 250insCAAA G1961E D498N 4017ins24bp 11 18 M L541P/A1038V IVS40&#fe;5g->a 14 25 M L541P/A1038V G1961E 17 15 F G1961E R2149X 13 48 M N96D IVS40&#fe;5G>A 38 29 M G1961E L1938L L1894L S1689P 25 23 F L541P/A1038V F655C 14 33 M R152Q G1961E 402ins24bp 18 21 M A60V G1961E 15 23 M G690V A1598D 11 27 M G1961E R2149X 11 51 F V615A G1961E 25 54 M N96D N1436I 28 21 M 250insCAAA P402A 13 25 F R1448K c.5018&#fe;2T>C 21 49 M 4538insC IVS40&#fe;5G>A 18 23 F G1961E c.6282&#fe;1G>C 18 46 M N96D N1436I 30 T ABLE 4. Login to comment