Results 221 to 230 of about 1,404,124 (275)

A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report. [PDF]

Medicine (Baltimore)
Li X, Ai L, Han CY, Cao YQ, Han JW.
europepmc   +1 more source

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review. [PDF]

Front Oncol
Song H, Mao G, Jiao N, Li J, Gao W, Liu Y, Lu L.   +6 more
europepmc   +1 more source

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

, 1995
Jens Michael Hertz, Niina Heiskari, Jing Zhou, Uffe Birk Jensen, Karl Tryggvason   +4 more
openalex   +1 more source

A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia [PDF]

, 2003
Consuelo González‐Manchón, Elena G. Arias‐Salgado, Nora Butta, Geneviève Martin, Ramón B. Rodrı́guez, Ιsmail Εlalamy, Roberto Parrilla, Rémi Favier   +7 more
openalex   +1 more source

A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6. [PDF]

J Diabetes
Li Y, Wen Q, Shao H, Hao M, Sun Y, Liu T.   +5 more
europepmc   +1 more source

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

Human Mutation, 2012
R. Sánchez‐Alcudia, B. Pérez, M. Ugarte, L. Desviat   +3 more
semanticscholar   +1 more source

Correction: Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process. [PDF]

PLoS Biol
Wittenstein A, Caspi M, Rippin I, Elroy-Stein O, Eldar-Finkelman H, Thoms S, Rosin-Arbesfeld R.   +6 more
europepmc   +1 more source

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

American Journal of Human Genetics, 2012
S. Kohl, F. Coppieters, F. Meire, Simone Schaich, S. Roosing, Christina Brennenstuhl, S. Bolz, M. V. van Genderen, F. Riemslag, R. Lukowski, A. D. den Hollander, F. Cremers, E. de Baere, C. Hoyng, B. Wissinger   +14 more
semanticscholar   +1 more source

Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse. [PDF]

Mol Ther Nucleic Acids
Jin M, Lin J, Li H, Li Z, Yang D, Wang Y, Yu Y, Shao Z, Chen L, Wang Z, Zhang Y, Zhang X, Wang N, Xu C, Yang H, Chen WJ, Li G.   +16 more
europepmc   +1 more source

A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with doparesponsive dystonia

, 2000
Kyeong‐Man Hong, Moon-Kee Paik, Yongsoo Kim   +2 more
openalex   +1 more source