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E-book

Title Hereditary retinopathies : progress in development of genetic and molecular therapies / Pete Humphries [and others]
Published New York, NY : Springer, ©2012

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Description 1 online resource
Series SpringerBriefs in genetics, 2191-5563
SpringerBriefs in genetics.
Contents Introduction -- Gene-based medicines targeting genetic defects directly and molecular pathologies common to multiple forms of disease -- Molecular medicines
Summary The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics
Analysis Human genetics
Gene therapy
Ophthalmology
Biomedicine
Bibliography Includes bibliographical references
Notes English
Subject Retina -- Diseases -- Genetic aspects
Biology.
Eye -- Diseases.
Retinal degeneration.
Life sciences.
Genetic disorders.
Retina -- Diseases.
Physical sciences.
Diseases.
Retinitis pigmentosa.
Retinal Dystrophies
Biology
Eye Diseases, Hereditary
Eye Diseases
Retinal Degeneration
Biological Science Disciplines
Genetic Diseases, Inborn
Retinal Diseases
Natural Science Disciplines
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Disease
Disciplines and Occupations
Retinitis Pigmentosa
Genetics
biology.
biological sciences.
physical sciences.
HEALTH & FITNESS -- Vision.
MEDICAL -- Ophthalmology.
Retinitis pigmentosa
Retinal degeneration
Retina -- Diseases
Physical sciences
Life sciences
Genetic disorders
Eye -- Diseases
Diseases
Biology
Retina -- Diseases -- Genetic aspects
Form Electronic book
Author Humphries, Peter, Ph. D.
ISBN 9781461444992
1461444993
1461444985
9781461444985