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Nat Genet. 1997 Mar;15(3):236-46.
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.
PMID: 9425888 [PubMed - indexed for MEDLINE]
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Cited by 25 PubMed Central articles
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Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Xi Q, Li L, Traboulsi EI, Wang QK.
Mol Vis. 2009; 15:638-45. Epub 2009 Apr 3.
[Mol Vis. 2009]
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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
Br J Ophthalmol. 2009 May; 93(5):614-21. Epub 2008 Nov 21.
[Br J Ophthalmol. 2009]
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Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice.
Allocca M, Doria M, Petrillo M, Colella P, Garcia-Hoyos M, Gibbs D, Kim SR, Maguire A, Rex TS, Di Vicino U, et al.
J Clin Invest. 2008 May; 118(5):1955-64.
[J Clin Invest. 2008]
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