Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype
โ Scribed by Zhang, Qingjiong; Li, Shiqiang; Guo, Xiangming; Guo, Li; Xiao, Xueshan; Jia, Xiaoyun; Kuang, Zhihe
- Book ID
- 125534866
- Publisher
- Informa plc
- Year
- 2001
- Tongue
- English
- Weight
- 145 KB
- Volume
- 22
- Category
- Article
- ISSN
- 1381-6810
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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