1999

Retinal Degenerative Diseases and Experimental Therapy

Editors:

ISBN: 978-0-306-46193-4 (Print) 978-0-585-33172-0 (Online)

Table of contents (53 chapters)

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  1. Front Matter

    Pages i-xiv

  2. Specific Gene Defects Cause Photoreceptor Degeneration

    1. Front Matter

      Pages 1-1

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      Book Chapter

      Pages 3-14

      Evidence for Myosin VIIa-Driven Transport of Rhodopsin in the Plasma Membrane of the Photoreceptor-Connecting Cilium

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      Book Chapter

      Pages 15-26

      Blindness in Usher Syndrome 1B

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      Pages 27-33

      Different Mutations in RPE65 Are Associated with Variability in the Severity of Retinal Dystrophy

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      Book Chapter

      Pages 35-42

      The RPE65-Deficient Mouse as a Model for RPE65-Associated Leber’s Congenital Amaurosis and Related Disorders

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      Book Chapter

      Pages 43-53

      CRALBP and Inherited Retinal Degeneration

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      Pages 55-65

      Guanylyl Cyclase Genes and Their Role in Retinal Degeneration

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      Book Chapter

      Pages 67-80

      Loss of Cone and Reduction in Rod ERG Responses in the Guanylyl Cyclase-E (GC-E) Deficient Mouse

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      Book Chapter

      Pages 81-93

      Guanylyl Cyclase Gene is the Disease Locus in the rd Chicken

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      Book Chapter

      Pages 95-104

      Leber’s Congenital Amaurosis

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      Pages 105-115

      Retinal Degeneration is Accelerated when a Mutant Rhodopsin Transgene is Expressed on a Haploid or Null Rhodopsin Background

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      Book Chapter

      Pages 117-128

      Rhodopsin C-Terminal Sequence Qvs(A)Pa Directs Its Sorting To The Ros In Retinal Photoreceptors

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      Book Chapter

      Pages 129-143

      The Cytoplasmic Tail of Rhodopsin Acts as a Sorting Signal in Polarized Photoreceptors and MDCK Cells

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      Book Chapter

      Pages 145-150

      A Homozygous 1-Base Pair Deletion (1147dela) in the Arrestin Gene in Autosomal Recessive Retinitis Pigmentosa

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      Book Chapter

      Pages 151-156

      mRNA Analysis of Oguchi Patients with the Frequent 1147delA Mutation in the Arrestin Gene

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      Book Chapter

      Pages 157-163

      Mutation Spectrum in the Rep-1 Gene of Japanese Choroideremia Patients

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      Book Chapter

      Pages 165-174

      Phenotype-Genotype Correlations in Retinal Degenerations Caused by Abcr gene Mutations

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      Book Chapter

      Pages 175-181

      Autosomal Dominant Macular Degeneration Localized to Chromosome 6q by Linkage Analysis

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      Book Chapter

      Pages 183-187

      The Gene Product of IMPG1 is the Glycoprotein SPACR, not an IPM Proteoglycan

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      Book Chapter

      Pages 189-199

      Bardet-Biedl Syndrome

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      Book Chapter

      Pages 201-213

      Genetic Mapping and Evaluation of PDE6A in 49 Spanish Families with Autosomal Recessive Retinitis Pigmentosa

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