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- Priestman, David A
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- Wang, Heng
- Wiznitzer, Max
- Gurtz, Kay
- Verganelaki, Argyro
- Pryde, Anna
- Patton, Michael A
- Dwek, Raymond A
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Producer: 20041207
In:
Nature genetics vol. 36
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Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. [electronic resource] by
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- Paushkin, Sergey
- Hwang, Seongwoo
- Leonard, Eileen M
- Almstead, Neil G
- Ju, William
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- Miller, Langdon L
Producer: 20070605
In:
Journal of clinical pharmacology vol. 47
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PTC124 targets genetic disorders caused by nonsense mutations. [electronic resource] by
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- Zhuo, Jin
- Tomizawa, Yuki
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- Trifillis, Panayiota
- Paushkin, Sergey
- Patel, Meenal
- Trotta, Christopher R
- Hwang, Seongwoo
- Wilde, Richard G
- Karp, Gary
- Takasugi, James
- Chen, Guangming
- Jones, Stephen
- Ren, Hongyu
- Moon, Young-Choon
- Corson, Donald
- Turpoff, Anthony A
- Campbell, Jeffrey A
- Conn, M Morgan
- Khan, Atiyya
- Almstead, Neil G
- Hedrick, Jean
- Mollin, Anna
- Risher, Nicole
- Weetall, Marla
- Yeh, Shirley
- Branstrom, Arthur A
- Colacino, Joseph M
- Babiak, John
- Ju, William D
- Hirawat, Samit
- Northcutt, Valerie J
- Miller, Langdon L
- Spatrick, Phyllis
- He, Feng
- Kawana, Masataka
- Feng, Huisheng
- Jacobson, Allan
- Peltz, Stuart W
- Sweeney, H Lee
Producer: 20070522
In:
Nature vol. 447
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Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. [electronic resource] by
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- Kunde, Stella-Amrei
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- Fischer, Ute
- Grimme, Astrid
- Frints, Suzanna G M
- Schwartz, Charles E
- Martínez, Francisco
- Romano, Corrado
- Ropers, Hans-Hilger
- Kalscheuer, Vera M
Producer: 20100312
In:
Human mutation vol. 31
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Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy. [electronic resource] by
- Kuniyoshi, Kazuki
- Ikeo, Kazuho
- Sakuramoto, Hiroyuki
- Furuno, Masaaki
- Yoshitake, Kazutoshi
- Hatsukawa, Yoshikazu
- Nakao, Akira
- Tsunoda, Kazushige
- Kusaka, Shunji
- Shimomura, Yoshikazu
- Iwata, Takeshi
Producer: 20150312
In:
Documenta ophthalmologica. Advances in ophthalmology vol. 130
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2793.
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Targeted next-generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris. [electronic resource] by
- Chen, S
- Kong, X
- Wei, X
- Sun, Y
- Yin, D
- Zhang, Q
- Du, L
- Man, J
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- Li, H
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- Yang, Y
Producer: 20190124
In:
The British journal of dermatology vol. 177
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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. [electronic resource] by
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- Cocciadiferro, Dario
- Augello, Bartolomeo
- Alfieri, Paolo
- Pes, Valentina
- Vancini, Alessandra
- Caciolo, Cristina
- Squeo, Gabriella Maria
- Malerba, Natascia
- Adipietro, Iolanda
- Novelli, Antonio
- Sotgiu, Stefano
- Gherardi, Renzo
- Digilio, Maria Cristina
- Dallapiccola, Bruno
- Merla, Giuseppe
Producer: 20180724
In:
International journal of molecular sciences vol. 19
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