𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational analysis and clinical correlation in Leber congenital amaurosis

✍ Scribed by Dharmaraj, Sharola; Silva, Eduardo; Pina, Ana Luisa; Li, Ying Ying; Yang, Jun-Ming; Carter, R. Colin; Loyer, Magali; El-Hilali, Hala; Traboulsi, Elias; Sundin, Olof; Zhu, Danping; Koenekoop, Robert K.; Maumenee, Irene H.

Book ID
126288781
Publisher
Informa plc
Year
2000
Tongue
English
Weight
235 KB
Volume
21
Category
Article
ISSN
1381-6810

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mutations in RPE65 cause Leber's congeni
Mutations in RPE65 cause Leber's congenital amaurosis
✍ Marlhens, FranΓ§oise; Bareil, Corinne; Griffoin, Jean-Michel; Zrenner, Eberhart; πŸ“‚ Article πŸ“… 1997 πŸ› Nature Publishing Group 🌐 English βš– 459 KB
Novel frameshift mutations in CRX associ
Novel frameshift mutations in CRX associated with Leber congenital amaurosis
✍ Carlo Rivolta; Naomi E. Peck; Anne B. Fulton; Gerald A. Fishman; Eliot L. Berson πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 31 KB

Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod