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Frameshift mutation

Population-Based Analysis of Invasive Nontypeable Pneumococci Reveals That Most Have Defective Capsule Synthesis Genes

In Ho Park, K. Aaron Geno, [ ... ], Bernard Beall

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Weining Rong, Xue Chen, [ ... ], Chen Zhao

A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

Gaël Manes, Pallavi Cheguru, [ ... ], Philippe Brabet

Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

Min-A Kim, Ye-Ri Kim, [ ... ], Un-Kyung Kim

Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

Leonardo Murgiano, Vidhya Jagannathan, [ ... ], Cord Drögemüller

A High-Throughput Colorimetric Screening Assay for Terpene Synthase Activity Based on Substrate Consumption

Maiko Furubayashi, Mayu Ikezumi, [ ... ], Daisuke Umeno

Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese

Yi-Lei Wu, Daw-Yang Hwang, [ ... ], Yann-Jinn Lee

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata, Tetsuya Niihori, [ ... ], Yoichi Matsubara

Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

Dong-Jun Xing, Hong-Xing Zhang, [ ... ], Zi-Bing Jin

Comparative Genomic Analysis of Primary and Synchronous Metastatic Colorectal Cancers

Sun Young Lee, Farhan Haq, [ ... ], Won-Suk Lee

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

Guillaume Huguet, Caroline Nava, [ ... ], Thomas Bourgeron

Molecular Characterization of HBV Strains Circulating among the Treatment-Naive HIV/HBV Co-Infected Patients of Eastern India

Debraj Saha, Ananya Pal, [ ... ], Runu Chakravarty

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

Yu Su, Wen-Xue Tang, [ ... ], Pu Dai

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