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Frameshift mutation

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Dong Ho Park, Yasuhiko Hirami, Hiroshi Nakanishi, Shinji Ueno, Tadashi Yokoi, Akiko Hikoya, Taichi Fujita, Yang Zhao, Sachiko Nishina, Jae Pil Shin, In Taek Kim, Shuichi Yamamoto, Noriyuki Azuma, Hiroko Terasaki, Miho Sato, Mineo Kondo, Shinsei Minoshima, Yoshihiro Hotta

published 17 Feb 2012

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Benzo[a]pyrene, Aflatoxine B₁ and Acetaldehyde Mutational Patterns in TP53 Gene Using a Functional Assay: Relevance to Human Cancer Aetiology

Vincent Paget, Mathilde Lechevrel, Véronique André, Jérémie Le Goff, Didier Pottier, Sylvain Billet, Guillaume Garçon, Pirouz Shirali, François Sichel

published 03 Feb 2012

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Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas

Jong Dae Lee, Tae Jun Kwon, Un-Kyung Kim, Won-Sang Lee

published 25 Jan 2012

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A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

Alexandre Bolze, Avinash Abhyankar, Audrey V. Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean-Francois Emile, Marçal Pastor-Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loic de Pontual, Jean-Laurent Casanova

published 04 Jan 2012

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Wolfram Syndrome: New Mutations, Different Phenotype

Concetta Aloi, Alessandro Salina, Lorenzo Pasquali, Francesca Lugani, Katia Perri, Chiara Russo, Ramona Tallone, Gian Marco Ghiggeri, Renata Lorini, Giuseppe d'Annunzio

published 04 Jan 2012

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The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

published 19 Dec 2011

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Runx1 Loss Minimally Impacts Long-Term Hematopoietic Stem Cells

Xiongwei Cai, Justin J. Gaudet, James K. Mangan, Michael J. Chen, Maria Elena De Obaldia, Zaw Oo, Patricia Ernst, Nancy A. Speck

published 01 Dec 2011

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Genetic Complexity of Fusidic Acid-Resistant Small Colony Variants (SCV) in Staphylococcus aureus

Jonas Lannergård, Sha Cao, Tobias Norström, Alejandro Delgado, John E. Gustafson, Diarmaid Hughes

published 29 Nov 2011

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An MSI Tumor Specific Frameshift Mutation in a Coding Microsatellite of MSH3 Encodes for HLA-A0201-Restricted CD8⁺ Cytotoxic T Cell Epitopes

Yvette Garbe, Claudia Maletzki, Michael Linnebacher

published 14 Nov 2011

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Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

Bruno Francou, Jérôme Bouligand, Adela Voican, Larbi Amazit, Séverine Trabado, Jérôme Fagart, Geri Meduri, Sylvie Brailly-Tabard, Philippe Chanson, Pierre Lecomte, Anne Guiochon-Mantel, Jacques Young

published 21 Oct 2011

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Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo

published 20 Oct 2011

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Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, Veena Kalra, Madhuri Behari, Satinder Aneja, Surendra Kumar Bansal

published 22 Sep 2011

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TGFBR2 and BAX Mononucleotide Tract Mutations, Microsatellite Instability, and Prognosis in 1072 Colorectal Cancers

Kaori Shima, Teppei Morikawa, Mai Yamauchi, Aya Kuchiba, Yu Imamura, Xiaoyun Liao, Jeffrey A. Meyerhardt, Charles S. Fuchs, Shuji Ogino

published 20 Sep 2011

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