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Retinitis Pigmentosa Advances in Genetical Research
 
 
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Retinitis Pigmentosa Advances in Genetical Research [Hardcover]

Peter Humphries (Author), Shomi Bhattacharya (Author), Alan C. Bird (Author)

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Book Description

0849301874 978-0849301872 July 6, 1991 1
This book represents the proceedings of the Sixth World Congress of the International Retinitis Pigmentosa Association (IRPA), Dublin, Ireland, July 20-22, 1990. It is intended for all research workers and ophthalmologists interested in the etiologies and diagnosis of inherited degenerative retinopathies. The book contains 22 original papers, many of which are genetically oriented. The genetic focus is due to the fact that highly significant progress in genetic research has been made over the last few years. Topics addressed in the book include proteins of the visual transduction cycle and their effect in the etiologies of RP, identification of more mutations, and new technologies for genetic analysis. The new technologies, in particular, will interest specialists in molecular genetics and researchers seeking information about more clinical applications and the implications of research of inherited retinopathies.

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Inside This Book (learn more)
First Sentence:
In this study we have investigated a total of 92 patients with R.P. from 61 families. Read the first page
Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
transplanted photoreceptors, primary retinitis pigmentosa, retinal epithelial cells, phytanic acid level, autosomal dominant retinitis pigmentosa, rhodopsin gene, duration from onset, parental birthplace, congenital stationary night blindness, arm probes, retinal epithelium, rhodopsin mutations, cone dystrophy, linkage testing, multipoint analysis, homozygosity mapping, genetic distribution, congenital amaurosis, muscular dystrophy gene, direct genomic, evidence for genetic heterogeneity, deletion breakpoint, consanguineous parents, subretinal space, disease locus
Key Phrases - Capitalized Phrases (CAPs): (learn more)
Heredopathia Atactica Polyneuritiformis, Hum Genet, Northern Ireland, Department of Ophthalmology, New York, University of Milan, Acids Res, Human Genetic Mutant Cell Repository, New Orleans, Bombay Hospital, Degenerative Retinopathies, Department of Genetics, Los Angeles, Baylor College of Medicine, Cell Line Collection, Med Genet, New Jersey, Posterior Cortical Opacities, Trinity College Dublin
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