Screening Genes of the Retinoid Metabolism: Novel LRAT Mutation in Leber Congenital Amaurosis
✍ Scribed by Audrey Sénéchal; Ghyslaine Humbert; Marie-Odile Surget; Cécile Bazalgette; Christian Bazalgette; Bernard Arnaud; Carl Arndt; Eric Laurent; Philippe Brabet; Christian P. Hamel
- Book ID
- 116201326
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 129 KB
- Volume
- 142
- Category
- Article
- ISSN
- 0002-9394
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Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have s
The phenotype in the rd mouse is similar to the clinical presentation of Leber congenital amaurosis (LCA) in humans. Recently a nonsense mutation in the beta subunit of the cGMP phosphodiesterase (Pdeb) gene has been defined as the cause for the rd phenotype in the mouse and has raised the question