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Mutation

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Yu Zhou, Siyu Tao, [ ... ], Xianjun Zhu

Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex Individuals

Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino

An A91V SNP in the Perforin Gene Is Frequently Found in NK/T-Cell Lymphomas

Rebeca Manso, Socorro María Rodríguez-Pinilla, [ ... ], Miguel Ángel Piris

CCR2 Gene Deletion and Pharmacologic Blockade Ameliorate a Severe Murine Experimental Autoimmune Neuritis Model of Guillain-Barré Syndrome

Furong Yuan, Nejla Yosef, [ ... ], Eroboghene E. Ubogu

Genetic Characterization of Hepatitis C Virus in Long-Term RNA Replication Using Li23 Cell Culture Systems

Nobuyuki Kato, Hiroe Sejima, [ ... ], Masanori Ikeda

The ToxAvapA Toxin-Antitoxin Locus Contributes to the Survival of Nontypeable Haemophilus influenzae during Infection

Dabin Ren, Alexis A. Kordis, Daniel E. Sonenshine, Dayle A. Daines

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, [ ... ], Shin-ichi Usami

The Superintegron Integrase and the Cassette Promoters Are Co-Regulated in Vibrio cholerae

Evelyne Krin, Guillaume Cambray, Didier Mazel

Mutations in CG8878, a Novel Putative Protein Kinase, Enhance P Element Dependent Silencing (PDS) and Position Effect Variegation (PEV) in Drosophila melanogaster

Allen McCracken, John Locke

Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

Dong-Jun Xing, Hong-Xing Zhang, [ ... ], Zi-Bing Jin

Activating FLT3 Mutants Show Distinct Gain-of-Function Phenotypes In Vitro and a Characteristic Signaling Pathway Profile Associated with Prognosis in Acute Myeloid Leukemia

Hanna Janke, Friederike Pastore, [ ... ], Harald Polzer

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

Celia N. Sanchez-Dominguez, Miguel A. Reyes-Lopez, [ ... ], Rocio Ortiz-Lopez

Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia

Sandra Blivet, Daniel Cobarzan, [ ... ], Thierry Chinet

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