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Deletion mutation

Decreased DNA methylation of a CpG site in the HBAP1 gene in plasma DNA from pregnant women

Tanapat Pangeson, Torpong Sanguansermsri, Khwanruedee Mahingsa, Phanchana Sanguansermsri

Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts

Joshua Lee, Yusuke Echigoya, [ ... ], Toshifumi Yokota

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin

Alessandro Terrinoni, Biagio Didona, [ ... ], Gerry Melino

The redox-sensing protein Rex modulates ethanol production in Thermoanaerobacterium saccharolyticum

Tianyong Zheng, Anthony A. Lanahan, Lee R. Lynd, Daniel G. Olson

The combination of NAD⁺-dependent deacetylase gene deletion and the interruption of gluconeogenesis causes increased glucose metabolism in budding yeast

Hiroshi Masumoto, Shigeru Matsuyama

Improving the efficiency of homologous recombination by chemical and biological approaches in Yarrowia lipolytica

In-Seung Jang, Byung Jo Yu, [ ... ], Ju Young Lee

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

Masafumi Kobayashi, Maiko Miyagawa, [ ... ], Shin-ichi Usami

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, [ ... ], Yufei Shi

The impact of EGFR mutations on the incidence and survival of stages I to III NSCLC patients with subsequent brain metastasis

Wei-Yuan Chang, Yi-Lin Wu, [ ... ], Wu-Chou Su

Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse

Christian Schori, Martin-Paul Agbaga, [ ... ], Marijana Samardzija

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Diana Parma, Marcela Ferrer, [ ... ], Irene Szijan

Molecular characterization of hepatitis B virus in Bangladesh reveals a highly recombinant population

Saif Ullah Munshi, Thanh Thi Thanh Tran, [ ... ], Motiur Rahman

Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey, [ ... ], Jakob D. Wikstrom

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