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Novel RDH12 sequence variations in Leber congenital amaurosis

โœ Scribed by Andrea Sodi; Roberto Caputo; Ilaria Passerini; Giacomo Maria Bacci; Ugo Menchini


Book ID
116590848
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
232 KB
Volume
14
Category
Article
ISSN
1528-3933

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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

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