eBook Molecular Genetics of Inherited Eye Disorders (Modern Genetics,) download
by Alan F. Wright
Author: Alan F. Wright
Publisher: CRC Press; 1 edition (December 1, 1994)
ePub: 1825 kb
Fb2: 1894 kb
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Subcategory: Medicine and Health Sciences
Read by Alan F. Wright.
The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene
Molecular Genetics of Retinoblastoma J. K. Cowell. Color Vision Defects J. Neitz and M. Neitz.
Molecular Genetics of Retinoblastoma J. Choroideremia F. P. M. Cremers and . H. Norrie Disease A. A. B. Bergen, W Berger, . Y. Chen, P. J. Diergaarde,E. ers, E. Battinelli,M. Diergaarde, E. Bleek. Battinelli, M. Warburg, .
With this knowledge at hand, genetic counselling for heritable eye diseases has been greatly improved. Download full-text PDF. Source. To: I M MacDonald, R Sasi.
Genetics in Ophthalmology covers both the clinical features and the molecular genetic findings .
Genetics in Ophthalmology covers both the clinical features and the molecular genetic findings, including information about where to get molecular genetic testing performed.
The book takes a hard and self-critical look at what can and cannot be achieved using a genetic approach and what is known about genetic and environmental mechanisms in a variety of common diseases.
An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Most inherited eye diseases are slowly progressive and patients are rarely examined by their physicians more than once .
Most inherited eye diseases are slowly progressive and patients are rarely examined by their physicians more than once per year.
Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.