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Nonsense mutation

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

Ondřej Bonczek, Peter Bielik, [ ... ], Omar Šerý

Identification of induced mutations in hexaploid wheat genome using exome capture assay

Momina Hussain, Muhammad Atif Iqbal, Bradley J. Till, Mehboob-ur- Rahman

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study

Artur Kowalik, Monika Siołek, [ ... ], Stanisław Góźdź

Retinal degeneration mutation in Sftpa1^tm1Kor/J and Sftpd ^-/- targeted mice

Faizah Bhatti, Johannes W. Kung, Frederico Vieira

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

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