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Open access

Case report

First published 2022-12

The clinical spectrum of a nonsense mutation in KAT6A : a case report

Dongbo Wang, Jun He, Xueyi Li [...]

Journal of International Medical Research

Retricted access

Research article

First published 2013-6

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

T. Nikopensius, T. Annilo, T. Jagomägi [...]

Journal of Dental Research

Open access

Research article

First published 2019-08

Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations

Lulu Huang, Mariam Aghajan, Tianna Quesenberry [...]

Nucleic Acid Therapeutics

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Research article

First published 2020-08

A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas

Zhonghua Chen, Weiwei Ruan, Menglu Li [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2018-3

Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene

Ping Wang, Carol Margolis, Gloria Lin [...]

Veterinary Pathology

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Research article

First published 2011-05

PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

T. Goldmann, N. Overlack, U. Wolfrum [...]

Human Gene Therapy

Open access

Case report

First published 2025-4

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report

Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Elius Paz-Cruz [...]

Science Progress

Free access

Case report

First published 2019

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy

Manu Jokela, Peter Baumann, Sanna Huovinen [...]

Journal of Neuromuscular Diseases

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Research article

First published 2017-06

A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico

Marisa Cruz-Aguilar, Carlos Galaviz-Hernández, José Hiebert-Froese [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2010-04

A c.1363C>T (p.R455X) Nonsense Mutation of RB1 Gene in a Southern Chinese Retinoblastoma Pedigree

Chun-Yue Chen, Chen-Ming Xu, Zhen-Fang Du [...]

Genetic Testing and Molecular Biomarkers

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