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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, [ ... ], Byung Yoon Choi

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

Xiaoxia Pan, Yan Ouyang, [ ... ], Nan Chen

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

Jaroslav Nunvar, Lucie Kalferstova, [ ... ], Pavel Drevinek

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

C. Alexander Valencia, Xinjian Wang, [ ... ], Alexander G. Miethke

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

Shazia Micheal, Sorath Noorani Siddiqui, [ ... ], Anneke I. den Hollander

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

Amit Tiwari, Johannes Lemke, [ ... ], Wolfgang Berger

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

Xiaoru Xia, Caijun Dai, [ ... ], Liangxing Wang

SQSTM1 Mutations and Glaucoma

Todd E. Scheetz, Ben R. Roos, [ ... ], John H. Fingert

Clear Plaque Mutants of Lactococcal Phage TP901-1

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

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, [ ... ], Paul-Martin Holterhus

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

Gunilla Jäger, Peng Chen, Glenn R. Björk

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

Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, [ ... ], Carmen Ayuso

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

Kärt Tomberg, Rami Khoriaty, [ ... ], Jorge Di Paola

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