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Mutation

The Impact of spgM, rpfF, rmlA Gene Distribution on Biofilm Formation in Stenotrophomonas maltophilia

Chao Zhuo, Qian-yu Zhao, Shu-nian Xiao

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Annalaura Torella, Marina Fanin, [ ... ], Vincenzo Nigro

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

Yun Wang, Zhi Wang, [ ... ], Xuyang Liu

R409K mutation prevents acid-induced aggregation of human IgG4

Hiroshi Namisaki, Seiji Saito, [ ... ], Nobuaki Takahashi

Human Cataract Mutations in EPHA2 SAM Domain Alter Receptor Stability and Function

Jeong Eun Park, Alexander I. Son, [ ... ], Renping Zhou

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, [ ... ], Sang-Hak Lee

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

Alejandro Garanto, Sylvia E. C. van Beersum, [ ... ], Rob W. J. Collin

Deriving a Mutation Index of Carcinogenicity Using Protein Structure and Protein Interfaces

Octavio Espinosa, Konstantinos Mitsopoulos, [ ... ], Marketa Zvelebil

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

Amjad Horani, Steven L. Brody, [ ... ], Eitan Kerem

Integrative Analysis of Somatic Mutations Altering MicroRNA Targeting in Cancer Genomes

Jesse D. Ziebarth, Anindya Bhattacharya, Yan Cui

Characterization of the PMT Gene Family in Cryptococcus neoformans

Sven D. Willger, Joachim F. Ernst, J. Andrew Alspaugh, Klaus B. Lengeler

Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

Alexandra F. S. Breitenkamp, Jan Matthes, [ ... ], Stefan Herzig

Analysis of Mitochondrial DNA Sequences in Childhood Encephalomyopathies Reveals New Disease-Associated Variants

Aijaz A. Wani, Sajad H. Ahanger, [ ... ], Yogesh S. Shouche

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