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Mutation databases

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Yoji Ogura, Shoji Yabuki, [ ... ], Shiro Ikegawa

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

Ying-Xia Cui, Xin-Yi Xia, [ ... ], Xiao-Jun Li

Comparison of Mutation Patterns in Full-Genome A/H3N2 Influenza Sequences Obtained Directly from Clinical Samples and the Same Samples after a Single MDCK Passage

Hong Kai Lee, Julian Wei-Tze Tang, [ ... ], Evelyn Siew-Chuan Koay

The Influence of Angiotensin Converting Enzyme and Angiotensinogen Gene Polymorphisms on Hypertrophic Cardiomyopathy

Rong Luo, Xiaoping Li, [ ... ], Xiushan Wu

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, [ ... ], Huijun Yuan

Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

Amanda Ramos, Cristina Santos, [ ... ], Maria Pilar Aluja

Prevalence of Dural Ectasia in Loeys-Dietz Syndrome: Comparison with Marfan Syndrome and Normal Controls

Atsushi K. Kono, Masahiro Higashi, [ ... ], Kazuro Sugimura

Accumulation of Protease Mutations among Patients Failing Second-Line Antiretroviral Therapy and Response to Salvage Therapy in Nigeria

Holly E. Rawizza, Beth Chaplin, [ ... ], Phyllis J. Kanki

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, [ ... ], Bernd A. Neubauer

Hot Spots in a Network of Functional Sites

Pemra Ozbek, Seren Soner, Turkan Haliloglu

Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, [ ... ], Jun Wang

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I-Ping Chen, [ ... ], Ernst J. Reichenberger

Mutationmapper: A Tool to Aid the Mapping of Protein Mutation Data

Shabana Vohra, Philip C. Biggin

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