𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

✍ Scribed by Lori S Sullivan; Stephen P Daiger


Book ID
117756780
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
755 KB
Volume
2
Category
Article
ISSN
1357-4310

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical and genetic heterogeneity in re
✍ Josseline Kaplan; Dominique Bonneau; Jean FrΓ©zal; Arnold Munnich; Jean-Louis Duf πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 733 KB

The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93 families with retinitis pigmentosa (RP). For autosomal dominant RP, two clinical subtypes could be distinguished according to the delay in macula

Inherited retinal degeneration and apopt
✍ Daly, Frank J. ;Sandell, Julie H. πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 883 KB

The mechanism of retinal cell death was studied in mutant zebrafish (Danio rerio) which undergo inherited degeneration of the retina and the brain. The shrunken head (shr m33 ) mutation was isolated as part of a large scale mutagenesis screen. The yellow head (yhd) mutation arose spontaneously among