𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Leber's Congenital Amaurosis Associated with Hyperthreoninemia

✍ Scribed by Hayasaka, Seiji; Hara, Satoshi; Mizuno, Katsuyoshi; Narisawa, Kuniaki; Tada, Keiya


Book ID
126974975
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
446 KB
Volume
101
Category
Article
ISSN
0002-9394

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Leber's congenital amaurosis: an update
✍ Elisa Fazzi; Sabrina Giovanna Signorini; Barbara Scelsa; Stefania Maria Bova; Gi πŸ“‚ Article πŸ“… 2003 πŸ› Elsevier Science 🌐 English βš– 149 KB
Novel frameshift mutations in CRX associ
✍ 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