PMID: 22589445

Giani A, Pellegrini M, Carini E, Peroglio Deiro A, Bottoni F, Staurenghi G
The dark atrophy with indocyanine green angiography in Stargardt disease.
Invest Ophthalmol Vis Sci. 2012 Jun 26;53(7):3999-4004. Print 2012 Jun., [PubMed]
Sentences
No. Mutations Sentence Comment
116 ABCA4 p.Arg212His
X
ABCA4 p.Arg212His 22589445:116:89
status: NEW
view ABCA4 p.Arg212His details
 Genetic analysis revealed the presence of the mutations in the ABCA4 gene: c.635G > A (p.Arg212His) (het); c.4594G > A (pAsp1532Asn) (het); c.6088C > T (p.Arg2030term) (het). Login to comment 117 ABCA4 p.Arg212His
X
ABCA4 p.Arg212His 22589445:117:89
status: NEW
view ABCA4 p.Arg212His details
 Genetic analysis revealed the presence of the mutations in the ABCA4 gene: c.635G > A (p.Arg212His) (het); c.4594G > A (pAsp1532Asn) (het); c.6088C > T (p.Arg2030term) (het). Login to comment 139 ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 22589445:139:167
status: NEW
view ABCA4 p.Gly863Ala details
 The diagnosis of STGD was confirmed after genetic analysis of the ABCA4 gene, which revealed the following mutations: c.2099G > A (p.Trp700Term) (het); c.2588G > C (p.Gly863Ala) (het). Login to comment 140 ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 22589445:140:167
status: NEW
view ABCA4 p.Gly863Ala details
 The diagnosis of STGD was confirmed after genetic analysis of the ABCA4 gene, which revealed the following mutations: c.2099G > A (p.Trp700Term) (het); c.2588G > C (p.Gly863Ala) (het). Login to comment