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Mutation

In Silico Screening Based on Predictive Algorithms as a Design Tool for Exon Skipping Oligonucleotides in Duchenne Muscular Dystrophy

Yusuke Echigoya, Vincent Mouly, [ ... ], William Duddy

Antithrombin III Deficiency in Indian Patients with Deep Vein Thrombosis: Identification of First India Based AT Variants Including a Novel Point Mutation (T280A) that Leads to Aggregation

Teena Bhakuni, Amit Sharma, [ ... ], Mohamad Aman Jairajpuri

Distinct Mutations Led to Inactivation of Type 1 Fimbriae Expression in Shigella spp.

Verónica Bravo, Andrea Puhar, [ ... ], Cecilia S. Toro

Lipoprotein Lipase SNPs rs13702 and rs301 Correlate with Clinical Outcome in Chronic Lymphocytic Leukemia Patients

Ans Rombout, Basile Stamatopoulos, [ ... ], Jan Philippé

Population Genomic Analysis of 962 Whole Genome Sequences of Humans Reveals Natural Selection in Non-Coding Regions

Fuli Yu, Jian Lu, [ ... ], Eric Boerwinkle

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)

Krastyu G. Ugrinov, Stefan D. Freed, Clayton L. Thomas, Shaun W. Lee

High Prevalence of the EBER Variant EB-8m in Endemic Nasopharyngeal Carcinomas

Zhi-chao Shen, Bing Luo, [ ... ], Yun Wang

Ultrasound Echo-Intensity Predicts Severe Pancreatic Affection in Cystic Fibrosis Patients

Trond Engjom, Friedemann Erchinger, [ ... ], Georg Dimcevski

Exome Analysis Reveals Differentially Mutated Gene Signatures of Stage, Grade and Subtype in Breast Cancers

You Li, Xiaosheng Wang, [ ... ], Chittibabu Guda

A Novel Nonsense Mutation in the MIP Gene Linked to Congenital Posterior Polar Cataracts in a Chinese Family

Zixun Song, Lianqing Wang, Yaping Liu, Wei Xiao

Use of Genome-Wide Association Studies for Cancer Research and Drug Repositioning

Jizhun Zhang, Kewei Jiang, [ ... ], Shan Wang

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, [ ... ], Ian N. M. Day

The Human Cytomegalovirus UL133-138 Gene Locus Attenuates the Lytic Viral Cycle in Fibroblasts

Nirmal Dutta, Philip Lashmit, [ ... ], Mark F. Stinski

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