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Nonsense mutation

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

Marta Fernandez-Mercado, Bon Ham Yip, [ ... ], Jacqueline Boultwood

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, [ ... ], Bing-Wen Soong

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Stefania Zampieri, Silvia Cattarossi, [ ... ], Andrea Dardis

Assessment of TP53 Mutations in Benign and Malignant Salivary Gland Neoplasms

Carolina Cavaliéri Gomes, Marina Gonçalves Diniz, [ ... ], Ricardo Santiago Gomez

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

Caroline Galeotti, Zineb Lahlou, [ ... ], Raja Brauner

Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

Eeva-Maria Laitinen, Johanna Tommiska, [ ... ], Taneli Raivio

Molecular Trajectories Leading to the Alternative Fates of Duplicate Genes

Michael Marotta, Helen Piontkivska, Hisashi Tanaka

A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Höhenvieh Cattle

Annie Menoud, Monika Welle, [ ... ], Cord Drögemüller

Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, [ ... ], Xueying Zhou

Unspliced Precursors of NMD-Sensitive β-Globin Transcripts Exhibit Decreased Steady-State Levels in Erythroid Cells

Ana Morgado, Fátima Almeida, [ ... ], Luísa Romão

New Mutations in Chronic Lymphocytic Leukemia Identified by Target Enrichment and Deep Sequencing

Elena Doménech, Gonzalo Gómez-López, [ ... ], Margarita Sánchez-Beato

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Eva Müller, Desiree Dunstheimer, [ ... ], Peter H. Heidemann

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