Results 271 to 275 of about 1,404,124 (275)

Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the CSTA Gene Encoding Cystatin A

Pediatric dermatology, 2013
A. Krunic, K. Stone, M. Simpson, J. McGrath   +3 more
semanticscholar   +1 more source

Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

Journal of dentistry research, 2013
T. Nikopensius, T. Annilo, T. Jagomägi, C. Gilissen, M. Kals, K. Krjutškov, R. Mägi, M. Eelmets, U. Gerst-Talas, M. Remm, M. Saag, A. Hoischen, A. Metspalu   +12 more
semanticscholar   +1 more source

NONSENSE MUTATION AS A CAUSE OF β THALASSEMIA *

Annals of the New York Academy of Sciences, 1980
Gary F. Temple, Gary F. Temple, Yuet Wai Kan, Yuet Wai Kan, Richard F. Trecartin, Richard F. Trecartin, Judy C. Chang, Judy C. Chang   +7 more
openaire   +2 more sources

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

Journal of Inherited Metabolic Disease, 2011
Lu Tan, Srinivas B. Narayan, Jie Chen, G. D. Meyers, M. Bennett   +4 more
semanticscholar   +1 more source

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

American Journal of Medical Genetics. Part A, 2011
M. Garshasbi, K. Kahrizi, M. Hosseini, Leila Nouri Vahid, Masoumeh Falah, S. Hemmati, Hao Hu, A. Tzschach, H. Ropers, H. Najmabadi, A. Kuss   +10 more
semanticscholar   +1 more source