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Hereditary Retinopathies Progress in Development of Genetic and Molecular Therapies /
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...
| Clasificación: | Libro Electrónico |
|---|---|
| Autores principales: | , , , , , , |
| Autor Corporativo: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
New York, NY :
Springer New York : Imprint: Springer,
2012.
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| Edición: | 1st ed. 2012. |
| Colección: | SpringerBriefs in Genetics,
1 |
| Temas: | |
| Acceso en línea: | Texto Completo |
MARC
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| 001 | 978-1-4614-4499-2 | ||
| 003 | DE-He213 | ||
| 005 | 20220113060752.0 | ||
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| 008 | 120803s2012 xxu| s |||| 0|eng d | ||
| 020 | |a 9781461444992 |9 978-1-4614-4499-2 | ||
| 024 | 7 | |a 10.1007/978-1-4614-4499-2 |2 doi | |
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| 100 | 1 | |a Humphries, Pete. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 245 | 1 | 0 | |a Hereditary Retinopathies |h [electronic resource] : |b Progress in Development of Genetic and Molecular Therapies / |c by Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang. |
| 250 | |a 1st ed. 2012. | ||
| 264 | 1 | |a New York, NY : |b Springer New York : |b Imprint: Springer, |c 2012. | |
| 300 | |a VII, 46 p. 8 illus., 5 illus. in color. |b online resource. | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 347 | |a text file |b PDF |2 rda | ||
| 490 | 1 | |a SpringerBriefs in Genetics, |x 2191-5571 ; |v 1 | |
| 505 | 0 | |a Preface -- Introduction -- Gene-based Medicines directly targeting genetic defects and molecular pathologies common to multiple forms of disease -- Molecular Medicines. | |
| 520 | |a 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. | ||
| 650 | 0 | |a Medical genetics. | |
| 650 | 0 | |a Ophthalmology. | |
| 650 | 1 | 4 | |a Medical Genetics. |
| 650 | 2 | 4 | |a Clinical Genetics. |
| 650 | 2 | 4 | |a Ophthalmology. |
| 700 | 1 | |a Humphries, Marian M. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 700 | 1 | |a Tam, Lawrence C. S. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 700 | 1 | |a Farrar, G. Jane. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 700 | 1 | |a Kenna, Paul F. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 700 | 1 | |a Campbell, Matthew. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 700 | 1 | |a Kiang, Anna-Sophia. |e author. |4 aut |4 http://id.loc.gov/vocabulary/relators/aut | |
| 710 | 2 | |a SpringerLink (Online service) | |
| 773 | 0 | |t Springer Nature eBook | |
| 776 | 0 | 8 | |i Printed edition: |z 9781461444985 |
| 776 | 0 | 8 | |i Printed edition: |z 9781461445005 |
| 830 | 0 | |a SpringerBriefs in Genetics, |x 2191-5571 ; |v 1 | |
| 856 | 4 | 0 | |u https://doi.uam.elogim.com/10.1007/978-1-4614-4499-2 |z Texto Completo |
| 912 | |a ZDB-2-SBL | ||
| 912 | |a ZDB-2-SXB | ||
| 950 | |a Biomedical and Life Sciences (SpringerNature-11642) | ||
| 950 | |a Biomedical and Life Sciences (R0) (SpringerNature-43708) | ||