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Mutation

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, [ ... ], Andreas Gal

A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats

Marie Abitbol, Philippe Bossé, Anne Thomas, Laurent Tiret

Crystal and EM Structures of Human Phosphoribosyl Pyrophosphate Synthase I (PRS1) Provide Novel Insights into the Disease-Associated Mutations

Peng Chen, Zheng Liu, [ ... ], Xu Li

Inositol Depletion Restores Vesicle Transport in Yeast Phospholipid Flippase Mutants

Kanako Yamagami, Takaharu Yamamoto, [ ... ], Kazuma Tanaka

High Frequency of Transmitted HIV-1 Gag HLA Class I-Driven Immune Escape Variants but Minimal Immune Selection over the First Year of Clade C Infection

Kamini Gounder, Nagavelli Padayachi, [ ... ], Thumbi Ndung’u

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

Ye-Ri Kim, Min-A Kim, [ ... ], Un-Kyung Kim

Large Cohort Screening of G6PD Deficiency and the Mutational Spectrum in the Dongguan District in Southern China

Qi Peng, Siping Li, [ ... ], Xiaomei Lu

ER Quality Control Components UGGT and STT3a Are Required for Activation of Defense Responses in Bir1-1

Qian Zhang, Tongjun Sun, Yuelin Zhang

Uric Acid and the Prediction Models of Tumor Lysis Syndrome in AML

A. Ahsan Ejaz, Negiin Pourafshar, [ ... ], Jack W. Hsu

Genome Editing Using TALENs in Blind Mexican Cavefish, Astyanax mexicanus

Li Ma, William R. Jeffery, Jeffrey J. Essner, Johanna E. Kowalko

IbeR Facilitates Stress-Resistance, Invasion and Pathogenicity of Avian Pathogenic Escherichia coli

Shaohui Wang, Yinli Bao, [ ... ], Chengping Lu

Adamantane-Resistant Influenza A Viruses in the World (1902–2013): Frequency and Distribution of M2 Gene Mutations

Guoying Dong, Chao Peng, [ ... ], Hongxuan He

Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

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