Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies-Reference-Cited by-同舟云学术

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Published:2013-11 Issue:11 Volume:120 Page:2332-2337
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Riveiro-Alvarez Rosa,Lopez-Martinez Miguel-Angel,Zernant Jana,Aguirre-Lamban Jana,Cantalapiedra Diego,Avila-Fernandez Almudena,Gimenez Ascension,Lopez-Molina Maria-Isabel,Garcia-Sandoval Blanca,Blanco-Kelly Fiona,Corton Marta,Tatu Sorina,Fernandez-San Jose Patricia,Trujillo-Tiebas Maria-Jose,Ramos Carmen,Allikmets Rando,Ayuso Carmen

Publisher

Elsevier BV

Subject

Ophthalmology

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3. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR;Martínez-Mir;Nat Genet,1998

4. 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

5. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease;Maugeri;Am J Hum Genet,1999

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