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Mutation

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency

Fabrice Rannou, Virginie Scotet, [ ... ], Cédric Le Maréchal

Pofut1 point-mutations that disrupt O-fucosyltransferase activity destabilize the protein and abolish Notch1 signaling during mouse somitogenesis

Rieko Ajima, Emiko Suzuki, Yumiko Saga

Questioning the role of selected somatic PIK3C2B mutations in squamous non-small cell lung cancer oncogenesis

Marcus Kind, Jolanta Klukowska-Rötzler, [ ... ], Roch-Philippe Charles

Non-small cell lung cancer (NSCLC), EGFR downstream pathway activation and TKI targeted therapies sensitivity: Effect of the plasma membrane-associated NEU3

Matilde Forcella, Monica Oldani, [ ... ], Milo Frattini

Idiopathic hypereosinophilia is clonal disorder? Clonality identified by targeted sequencing

Jee-Soo Lee, Heewon Seo, [ ... ], Dong Soon Lee

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio, [ ... ], Vincenzo Sorrentino

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population

Izabela Nowak, Aleksandra Bylińska, [ ... ], Piotr Kuśnierczyk

Inhibition of human cytomegalovirus immediate early gene expression and growth by a novel RNase P ribozyme variant

Xu Sun, Weijie Chen, [ ... ], Fenyong Liu

The transcriptional regulator LysG (Rv1985c) of Mycobacterium tuberculosis activates lysE (Rv1986) in a lysine-dependent manner

Marie Schneefeld, Tobias Busche, [ ... ], Franz-Christoph Bange

Impact of annotation error in α-globin genes on molecular diagnosis

J. Francis Borgio

Novel drug targets in cell wall biosynthesis exploited by gene disruption in Pseudomonas aeruginosa

Ayssar A. Elamin, Susanne Steinicke, [ ... ], Mahavir Singh

Viral infection upregulates myostatin promoter activity in orange-spotted grouper (Epinephelus coioides)

Yi-Tien Chen, Chao-Fen Lin, [ ... ], Tzong-Yueh Chen

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

Elena Pardi, Simona Borsari, [ ... ], Filomena Cetani

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