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A novel recessive RPGRIP1 mutation causing leber congenital amaurosis

Othman, I S
Schorderet, D F
Published in Klinische Monatsblätter für Augenheilkunde. 2016, vol. 233, no. 4, p. 456-9
Abstract Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital amaurosis and cone-rod dystrophy.
Keywords EgyptFemaleGenesRecessive/geneticsGenetic Predisposition to Disease/geneticsHumansLeber Congenital Amaurosis/diagnosis/geneticsMaleMutation/geneticsPolymorphismSingle Nucleotide/geneticsProteins/genetics
PMID: 27116508
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Research group Ophtalmologie expérimentale (925)
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ABOUZEID, Hana, OTHMAN, I S, SCHORDERET, D F. A novel recessive RPGRIP1 mutation causing leber congenital amaurosis. In: Klinische Monatsblätter für Augenheilkunde, 2016, vol. 233, n° 4, p. 456-9. doi: 10.1055/s-0041-111815

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Deposited on : 2020-10-01

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