The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

Author:

Ducroq Dominique,Rozet Jean-Michel,Gerber Sylvie,Perrault Isabelle,Barbet Fabienne,Hanein Sylvain,Hakiki Selim,Dufier Jean-Louis,Munnich Arnold,Hamel Christian,Kaplan Josseline

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat Genet,1997

2. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR;Cremers;Hum Mol Genet,1998

3. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene;Danciger;Invest Ophthalmol Vis Sci,2001

4. Complete intron-exon structure of the retinal specific ATP-binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease;Gerber;Genomics,1998

5. Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene;Klevering;Invest Ophthalmol Vis Sci,2002

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