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Frameshift mutation

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

Kyu-Hee Han, Ah Reum Kim, Min Young Kim, Soyeon Ahn, Seung-Ha Oh, Ju Hun Song, Byung Yoon Choi

published 01 Sep 2016

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

published 25 Aug 2016

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Understanding the Pathogenicity of Burkholderia contaminans, an Emerging Pathogen in Cystic Fibrosis

Jaroslav Nunvar, Lucie Kalferstova, Ruhi A. M. Bloodworth, Michal Kolar, Jose Degrossi, Silvina Lubovich, Silvia T. Cardona, Pavel Drevinek

published 11 Aug 2016

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Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

C. Alexander Valencia, Xinjian Wang, Jin Wang, Anna Peters, Julia R. Simmons, Molly C. Moran, Abhinav Mathur, Ammar Husami, Yaping Qian, Rachel Sheridan, Kevin E. Bove, David Witte, Taosheng Huang, Alexander G. Miethke

published 02 Aug 2016

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Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan, Anneke I. den Hollander

published 13 Jul 2016

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Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

published 08 Jul 2016

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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Xiaoru Xia, Caijun Dai, Xiaochun Zhu, Qiumei Liao, Xu Luo, Yangyang Fu, Liangxing Wang

published 17 Jun 2016

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SQSTM1 Mutations and Glaucoma

Todd E. Scheetz, Ben R. Roos, Frances Solivan-Timpe, Kathy Miller, Adam P. DeLuca, Edwin M. Stone, Young H. Kwon, Wallace L. M. Alward, Kai Wang, John H. Fingert

published 08 Jun 2016

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Clear Plaque Mutants of Lactococcal Phage TP901-1

Witold Kot, Mogens Kilstrup, Finn K. Vogensen, Karin Hammer

published 03 Jun 2016

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A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

Nadine C. Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E. Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus

published 25 Apr 2016

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Transfer RNA Bound to MnmH Protein Is Enriched with Geranylated tRNA – A Possible Intermediate in Its Selenation?

Gunilla Jäger, Peng Chen, Glenn R. Björk

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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Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice

Kärt Tomberg, Rami Khoriaty, Randal J. Westrick, Heather E. Fairfield, Laura G. Reinholdt, Gary L. Brodsky, Pavel Davizon-Castillo, David Ginsburg, Jorge Di Paola

published 07 Mar 2016

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