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Nonsense mutation

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou

published 25 Sep 2017

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Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik, Monika Ołdak

published 25 Aug 2017

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul A. Brogan

published 27 Jul 2017

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Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng

published 24 Jul 2017

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MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

James W. McNamara, Amy Li, Sean Lal, J. Martijn Bos, Samantha P. Harris, Jolanda van der Velden, Michael J. Ackerman, Roger Cooke, Cristobal G. dos Remedios

published 28 Jun 2017

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

published 02 Jun 2017

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

Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

published 25 May 2017

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Specific expression and function of the A-type cytochrome c oxidase under starvation conditions in Pseudomonas aeruginosa

Tatsuya Osamura, Takuro Kawakami, Reiko Kido, Masaharu Ishii, Hiroyuki Arai

published 18 May 2017

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

Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li

published 18 May 2017

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Lack of significant associations with early career performance suggest no link between the DMRT3 “Gait Keeper” mutation and precocity in Coldblooded trotters

Kim Jäderkvist Fegraeus, Chameli Lawrence, Katrine Petäjistö, Maria K. Johansson, Maja Wiklund, Christina Olsson, Leif Andersson, Lisa S Andersson, Knut H. Røed, Carl-Fredrik Ihler, Eric Strand, Gabriella Lindgren, Brandon D. Velie

published 10 May 2017

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A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies

Ryan D. Geraets, Logan M. Langin, Jacob T. Cain, Camille M. Parker, Rosanna Beraldi, Attila D. Kovacs, Jill M. Weimer, David A. Pearce

published 02 May 2017

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Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei

Lilli Saarinen, Pirjo Nummela, Alexandra Thiel, Rainer Lehtonen, Petrus Järvinen, Heikki Järvinen, Lauri A. Aaltonen, Anna Lepistö, Sampsa Hautaniemi, Ari Ristimäki

published 20 Apr 2017

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

Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang

published 12 Apr 2017

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