Molecular Genetics of Inherited Eye Disorders - Alan F. Wright

Molecular Genetics of Inherited Eye Disorders

(Autor)

Buch | Hardcover
552 Seiten
1994
Taylor and Francis (Verlag)
978-3-7186-5493-2 (ISBN)
179,95 inkl. MwSt
This text provides an account of molecular genetic advances in a wide spectrum of genetic eye disorders and forms the second volume on the "Modern Genetics" series. Sections on albinism, retinitis pigmentosa and collagen disorders deal with the problems of heterogeneity.
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.

Preface to the Series


Preface


Contributors


Background to Molecular Genetic Principles and Techniques M. B. Gorin and A. F. Wright





INVERTEBRATES


Retinal Degeneration Mutants of Drosophila W. L Pak





VERTEBRATES CHOROID AND RETINA


Diagnosis in Inherited Retinal Disorders A. C. Bird and B. Jay


Human Albinism and Mouse Models R. A. King, I. J. Jackson and W. S. Oetting


Inherited Retinal Degenerations in the Mouse D. B. Farber and M. Danciger


Autosomal Dominant Retinitis Pigmentosa P. Humphries, P. Kenna and G. J. Farrar


The Molecular Genetic Approach to Macular Degeneration E. M. Stone and V. C. Sheffield


Molecular Genetics of Retinoblastoma J. K. Cowell


Color Vision Defects J. Neitz and M. Neitz


X-linked Retinitis Pigmentosa M. A. Aldred, M. Jay and A. F. Wright


Congenital Stationary Night Blindness: A Critical Review for Molecular Approaches Heon and M. A. Musarella


Choroideremia F. P. M. Cremers and H.-H. Ropers


Norrie Disease A. A. B. Bergen, W Berger, Z.-Y. Chen, P. J. Diergaarde, E. M. Bleek.er-Wagemak.ers, E. M. Battinelli, M. Warburg, H.-H. Ropers and I. Craig


X-linked Juvenile Rednoschisis A. de la Chapelle, T. Alitalo and H. Forsius


Clinical and Genetic Heterogeneity of Usher Syndrome W. J. Kimberling, M. Weston and C. Moller





VITREOUS/LENS


Marfan Syndrome P. Tsipouras and. M. W Kilpatrick


Lowe Oculocerebrorenal Syndrome I. Okabe and R. L. Nussbaum


Crystallin Genes and Cataract M. Cartier, L.-C. Tsui, S. P. Ball and N. H. Lubsen





ANTERIOR SEGMENT


Aniridia I. Hanson, T. Jordan and V. van Heyningen





METABOLIC


Mitochondrial DNA Mutations and the Eye M. D. Brown, M. T. Lott and D. C. Wallace


GLOSSARY


INDEX

Erscheint lt. Verlag 1.12.1994
Zusatzinfo Farb., s/w. Abb.
Verlagsort Chur
Sprache englisch
Maße 178 x 254 mm
Gewicht 1451 g
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Augenheilkunde
Medizinische Fachgebiete Chirurgie Unfallchirurgie / Orthopädie
Studium 2. Studienabschnitt (Klinik) Humangenetik
ISBN-10 3-7186-5493-8 / 3718654938
ISBN-13 978-3-7186-5493-2 / 9783718654932
Zustand Neuware
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