Cone-Rode Dystrophy 3
OMIM:604116Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
Gene Symbol | ABCA4 |
---|---|
DNA Change | IVS5-2A>G![]() |
A.A. Change | Frameshift ![]() |
Exon/Intron | intron 5 |
Mutation Type | substitution |
Reference | Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J.The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet. 2002 Dec;71(6):1480-2. |
 
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