ABCMdb

PMID: 17270046

Hamel CP
Cone rod dystrophies.
Orphanet J Rare Dis. 2007 Feb 1;2:7., [PubMed]

Sentences

No. Mutations Sentence Comment

69 ABCA4 p.Glu1087* ABCA4 p.Glu1087* The peripheral retina does not show any large lesion but the macula is atrophic.Fundus of a 45 year-old patient with cone rod dystrophy seg-regating with a loss-of-function mutation (E1087X) in ABCA4Figure 1 Fundus of a 45 year-old patient with cone rod dystrophy seg-regating with a loss-of-function mutation (E1087X) in ABCA4. Login to comment 70 ABCA4 p.Glu1087* ABCA4 p.Glu1087* Fundus of a 45 year-old patient with cone rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4 Figure 1 Fundus of a 45 year-old patient with cone rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4. Login to comment