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Nonsense mutation

A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies

Daniel R. McHugh, Miarasa S. Steele, [ ... ], Craig A. Hodges

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Dhandayuthapani Sudha, Srividya Neriyanuri, [ ... ], Jayamuruga Pandian Arunachalam

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, [ ... ], Laila Bastaki

ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, [ ... ], Xin Yi

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

L. Lavalle, A. S. Thomas, [ ... ], D. A. Hughes

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, [ ... ], Yufei Shi

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

Peter C. van den Akker, Anna M. G. Pasmooij, [ ... ], Marcel F. Jonkman

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, [ ... ], Qun He

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, [ ... ], Karin Wadt

The absence of N-acetylglucosamine in wall teichoic acids of Listeria monocytogenes modifies biofilm architecture and tolerance to rinsing and cleaning procedures

Thomas Brauge, Christine Faille, [ ... ], Graziella Midelet-Bourdin

Germ-line and somatic EPHA2 coding variants in lens aging and cataract

Thomas M. Bennett, Oussama M’Hamdi, J. Fielding Hejtmancik, Alan Shiels

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Diana Parma, Marcela Ferrer, [ ... ], Irene Szijan

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