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Title
CRB1mutations in inherited retinal dystrophies
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 33, Issue 2, Pages 306-315
Publisher
Wiley
Online
2011-11-08
DOI
10.1002/humu.21653
References
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Related references
Note: Only part of the references are listed.- Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
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- (2010) Graeme Richard Clark et al. OPHTHALMOLOGY
- Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping
- (2009) Liat Benayoun et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Case Report: Autofluorescence Imaging and Phenotypic Variance in a Sibling Pair with Early-Onset Retinal Dystrophy Due to Defective CRB1 Function
- (2009) Joaquin Tosi et al. CURRENT EYE RESEARCH
- NR2E3mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)
- (2009) Daniel F. Schorderet et al. HUMAN MUTATION
- HomozygosityMapper--an interactive approach to homozygosity mapping
- (2009) D. Seelow et al. NUCLEIC ACIDS RESEARCH
- The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography
- (2008) M Hajali et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Composition and function of the Crumbs protein complex in the mammalian retina
- (2008) Ilse Gosens et al. EXPERIMENTAL EYE RESEARCH
- Leber congenital amaurosis: Genes, proteins and disease mechanisms
- (2008) Anneke I. den Hollander et al. PROGRESS IN RETINAL AND EYE RESEARCH
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