Del i serien Advances in Experimental Medicine and Biology

Retinal Degenerative Diseases

Inbunden, Engelska, 2006

AvJoe G. Hollyfield,Robert E. Anderson,Matthew M. LaVail

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Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field.

Produktinformation

Utgivningsdatum2006-01-05
Mått155 x 235 x 41 mm
Vikt1 153 g
FormatInbunden
SpråkEngelska
SerieAdvances in Experimental Medicine and Biology
Antal sidor557
FörlagSpringer-Verlag New York Inc.
ISBN9780387284644

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From the contents Genetic Factors Modifying Clinical Expression of Autosomal Dominant Rp.- Disease-Associated Variants of The Rod-Derived Cone Viability Factor (Rdcvf) In Leber Congenital Amaurosis. Rod-Derived Cone Viability Variants in Lca.- Leber Congenital Amaurosis: Survey of The Genetic Heterogeneity, Refinement of The Clinical Definition and Phenotype-Genotype Correlations as A Strategy For Molecular Diagnosis. Clinical and Molecular Survey in Lca.- A First Locus For Isolated Autosomal Recessive Optic Atrophy (Roa1) Maps To Chromosome 8q21-Q22.- Rcc1-Like Domain and ORF15: Essentials in Rpgr Gene.- Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the Rds/Peripherin Gene.- Biochemical Characterisation of the C1QTNF5 Gene Associated With Late-Onset Retinal Degeneration. A Genetic Model of Age-Related Macular Degeneration.- Bietti Crystalline Corneoretinal Dystrophy Associated with Cyp4v2 Gene Mutations.- Fundus Appearance Of Choroideremia Using Optical Coherence Tomograpy.- A2e, A Fluorophore Of Rpe Lipofuscin, Can Destabilie Membrane.- Amino-Retinoid Compounds in The Human Retinal Pigment Epithelium.- Annexins In Bruch’s Membrane and Drusen.- Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by Impdh1 Mutations.