Results 231 to 240 of about 1,404,124 (275)

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

European Respiratory Journal, 2011
M. Wilschanski, L. Miller, D. Shoseyov, H. Blau, J. Rivlin, M. Aviram, M. Cohen, S. Armoni, Yasmin Yaakov, Thea Pugatch, M. Cohen-Cymberknoh, Nilsen L. Miller, A. Reha, V. Northcutt, S. Hirawat, Kerri Donnelly, G. Elfring, T. Ajayi, E. Kerem   +18 more
semanticscholar   +1 more source

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Unnatural Amino Acid-Based Ionic Liquid Enables Oral Treatment of Nonsense Mutation Disease in Mice. [PDF]

Adv Sci (Weinh)
Shi Y, Shi N, Yang Y, Zheng Z, Xia Q.
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy. [PDF]

Acta Med Philipp
Lappay JI, Sanchez-Gan BC, Abadingo ME.
europepmc   +1 more source

A nonsense mutation in FMR1 causing fragile X syndrome

European Journal of Human Genetics, 2011
K. Grønskov, K. Brøndum‐Nielsen, Alma Dedic, H. Hjalgrim   +3 more
semanticscholar   +1 more source

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene

Eye, 2011
P. Sergouniotis, P. Sergouniotis, Alice E. Davidson, Kulwant S. Sehmi, Andrew R. Webster, Andrew R. Webster, A. G. Robson, A. G. Robson, A. T. Moore, A. T. Moore   +9 more
semanticscholar   +1 more source

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN). [PDF]

Heliyon
Peng Q, Cui Y, Wu J, Wu L, Liu J, Han Y, Lu G.   +6 more
europepmc   +1 more source

Nonsense Mutation

, 2001

openalex   +1 more source