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Frameshift mutation

Characterization of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione resistance in pyomelanogenic Pseudomonas aeruginosa DKN343

Laura M. Ketelboeter, Sonia L. Bardy

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, [ ... ], Lu Jiang

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, [ ... ], Xiao-Jun Li

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, [ ... ], Abdelhamid Barakat

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Ralf Werner, Isabel Mönig, [ ... ], Olaf Hiort

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, [ ... ], Zhaoxia Wang

Investigation of mutations in the HBB gene using the 1,000 genomes database

Tânia Carlice-dos-Reis, Jaime Viana, [ ... ], Ândrea Ribeiro-dos-Santos

Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes

Bhavi P. Modi, Maria E. Teves, [ ... ], Jerome F. Strauss III

Mechanisms of glycosylase induced genomic instability

Daniel E. Eyler, Kylie A. Burnham, Thomas E. Wilson, Patrick J. O’Brien

A spontaneous mutation in kdsD, a biosynthesis gene for 3 Deoxy-_D-manno-Octulosonic Acid, occurred in a ciprofloxacin resistant strain of Francisella tularensis and caused a high level of attenuation in murine models of tularemia

Taylor Chance, Jennifer Chua, [ ... ], Joel A. Bozue

TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma

Audrey Gros, Elodie Laharanne, [ ... ], Jean-Philippe Merlio

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, [ ... ], Polly J. Ferguson

Conventional colon adenomas harbor various disturbances in microsatellite stability and contain micro-serrated foci with microsatellite instability

Piotr Lewitowicz, Stanislaw Gluszek, [ ... ], Anna Nasierowska-Guttmejer

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