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Novel NMNAT1 mutations causing Leber congenital amaurosis identified

✍ Scribed by Kaur, A


Book ID
119827403
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
498 KB
Volume
83
Category
Article
ISSN
0009-9163

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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