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Nonsense mutation

CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome

Mee Hyun Song, Hyun-Ju Cho, [ ... ], Un-Kyung Kim

Readthrough of Premature Termination Codons in the Adenomatous Polyposis Coli Gene Restores Its Biological Activity in Human Cancer Cells

Célia Floquet, Jean-Pierre Rousset, Laure Bidou

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, [ ... ], Xuefan Gu

Defective CFTR Expression and Function Are Detectable in Blood Monocytes: Development of a New Blood Test for Cystic Fibrosis

Claudio Sorio, Mario Buffelli, [ ... ], Paola Melotti

A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide Association Study Is Responsible for Inherited Rickets in Corriedale Sheep

Xia Zhao, Keren E. Dittmer, [ ... ], Dorian J. Garrick

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

Manuela Vecsler, Bruria Ben Zeev, [ ... ], Eva Gak

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, [ ... ], J. Fielding Hejtmancik

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

Marie-Elisabeth Brun, Erica Lana, [ ... ], Albertina De Sario

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Stéphanie Boisson-Dupuis, Jamila El Baghdadi, [ ... ], Jean-Laurent Casanova

Point Mutations in Helicobacter pylori's fur Regulatory Gene that Alter Resistance to Metronidazole, a Prodrug Activated by Chemical Reduction

Sung Sook Choi, Peter T. Chivers, Douglas E. Berg

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

Tianna Zhao, Esther De Graaff, [ ... ], Vincenzo Bonifati

ENU Mutagenesis Identifies Mice with Morbid Obesity and Severe Hyperinsulinemia Caused by a Novel Mutation in Leptin

Chen-Jee Hong, Pei-Jane Tsai, [ ... ], Yau-Sheng Tsai

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, [ ... ], Masaki Yasukawa

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