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Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations

✍ Scribed by Wenyu Sun; Christina Gerth; Akiko Maeda; David T. Lodowski; Lauren Van Der Kraak; David A. Saperstein; Elise Héon; Krzysztof Palczewski


Book ID
113949049
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
950 KB
Volume
47
Category
Article
ISSN
0042-6989

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✍ Carlo Rivolta; Naomi E. Peck; Anne B. Fulton; Gerald A. Fishman; Eliot L. Berson 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 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