Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the re
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
✍ Scribed by Wang, Feng; Wang, Hui; Tuan, Han-Fang; Nguyen, Duy H.; Sun, Vincent; Keser, Vafa; Bowne, Sara J.; Sullivan, Lori S.; Luo, Hongrong; Zhao, Ling; Wang, Xia; Zaneveld, Jacques E.; Salvo, Jason S.; Siddiqui, Sorath; Mao, Louise; Wheaton, Dianna K.; Birch, David G.; Branham, Kari E.; Heckenlively, John R.; Wen, Cindy; Flagg, Ken; Ferreyra, Henry; Pei, Jacqueline; Khan, Ayesha; Ren, Huanan; Wang, Keqing; Lopez, Irma; Qamar, Raheel; Zenteno, Juan C.; Ayala-Ramirez, Raul; Buentello-Volante, Beatriz; Fu, Qing; Simpson, David A.; Li, Yumei; Sui, Ruifang; Silvestri, Giuliana; Daiger, Stephen P.; Koenekoop, Robert K.; Zhang, Kang; Chen, Rui
- Book ID
- 121554687
- Publisher
- Springer
- Year
- 2013
- Tongue
- English
- Weight
- 920 KB
- Volume
- 133
- Category
- Article
- ISSN
- 0340-6717
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