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Nonsense mutation

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, [ ... ], Hiroyuki Harada

Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, [ ... ], Matija Rijavec

Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma

Haley M. Simpson, Rashid Z. Khan, [ ... ], Arnob Banerjee

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz, Yolanda Martín, [ ... ], Concepción Hernández-Chico

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

Liping Yang, Hui Cui, [ ... ], Zhizhong Ma

Effects of p35 Mutations Associated with Mental Retardation on the Cellular Function of p35-CDK5

Shunsuke Takada, Keiko Mizuno, [ ... ], Shin-ichi Hisanaga

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Zhao Chen, Wei Ye, [ ... ], Hong Jiang

Antimicrobial Resistance and Molecular Investigation of H₂S-Negative Salmonella enterica subsp. enterica serovar Choleraesuis Isolates in China

Jing Xie, Shengjie Yi, [ ... ], Hongbin Song

Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

Lee-Moay Lim, Xuan Zhao, [ ... ], Hung-Chun Chen

A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia

Haochen Liu, Tingting Ding, Yuan Zhan, Hailan Feng

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Bruno Maranhao, Pooja Biswas, [ ... ], Radha Ayyagari

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan

Makito Hirano, Wataru Satake, [ ... ], Tatsushi Toda

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

Laura L. Kilarski, Loes C. A. Rutten-Jacobs, [ ... ], UK Young Lacunar Stroke DNA Study

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