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Nonsense mutation

MOXD2, a Gene Possibly Associated with Olfaction, Is Frequently Inactivated in Birds

Chul Jun Goh, Dongjin Choi, Dong-Bin Park, Hyein Kim, Yoonsoo Hahn

published 13 Apr 2016

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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J. Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

published 12 Apr 2016

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The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency

Neng-Li Wang, Li-Ting Li, Bing-Bing Wu, Jing-Yu Gong, Kuerbanjiang Abuduxikuer, Gang Li, Jian-She Wang

published 06 Apr 2016

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Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators

Wei Wang, Jeong S. Hong, Andras Rab, Eric J. Sorscher, Kevin L. Kirk

published 23 Mar 2016

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Structure of the Intermediate Filament-Binding Region of Desmoplakin

Hyunook Kang, Thomas M. Weiss, Injin Bang, William I. Weis, Hee-Jung Choi

published 25 Jan 2016

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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, Pallavi Shukla, Anita Rao, Kanjaksha Ghosh, Babu Rao Vundinti

published 22 Jan 2016

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Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

Zhi Yon Charles Toh, May Thandar Aung-Htut, Gavin Pinniger, Abbie M. Adams, Sudarsan Krishnaswarmy, Brenda L. Wong, Sue Fletcher, Steve D. Wilton

published 08 Jan 2016

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A20 Mutation Is Not a Prognostic Marker for Activated B-Cell-Like Diffuse Large B-Cell Lymphoma

Hong Cen, Xiaohong Tan, Baoping Guo

published 30 Dec 2015

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Prevalence of Titin Truncating Variants in General Population

Oyediran Akinrinade, Juha W. Koskenvuo, Tero-Pekka Alastalo

published 23 Dec 2015

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Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci

published 17 Dec 2015

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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer

Eleonor Olsson, Christof Winter, Anthony George, Yilun Chen, Therese Törngren, Pär-Ola Bendahl, Åke Borg, Sofia K. Gruvberger-Saal, Lao H. Saal

published 15 Dec 2015

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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

Michael Vanlandewijck, Thibaud Lebouvier, Maarja Andaloussi Mäe, Khayrun Nahar, Simone Hornemann, David Kenkel, Sara I. Cunha, Johan Lennartsson, Andreas Boss, Carl-Henrik Heldin, Annika Keller, Christer Betsholtz

published 23 Nov 2015

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Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

Toshiya Okumura, Kengo Furuichi, Tomomi Higashide, Mayumi Sakurai, Shin-ichi Hashimoto, Yasuyuki Shinozaki, Akinori Hara, Yasunori Iwata, Norihiko Sakai, Kazuhisa Sugiyama, Shuichi Kaneko, Takashi Wada

published 16 Nov 2015

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