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Point mutation

A Point Mutation in Translation Initiation Factor 2B Leads to a Continuous Hyper Stress State in Oligodendroglial-Derived Cells

Liraz Kantor, Dalia Pinchasi, [ ... ], Orna Elroy-Stein

BicaudalD Actively Regulates Microtubule Motor Activity in Lipid Droplet Transport

Kristoffer S. Larsen, Jing Xu, [ ... ], Steven P. Gross

Effect of Ku80 Deficiency on Mutation Frequencies and Spectra at a LacZ Reporter Locus in Mouse Tissues and Cells

Rita A. Busuttil, Denise P. Muñoz, [ ... ], Jan Vijg

Analysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3

Njideka Okubadejo, Angela Britton, [ ... ], Jose Bras

Mutants of GABA Transaminase (POP2) Suppress the Severe Phenotype of succinic semialdehyde dehydrogenase (ssadh) Mutants in Arabidopsis

Frank Ludewig, Anke Hüser, [ ... ], Nicolas Bouché

Genome Wide Identification of Recessive Cancer Genes by Combinatorial Mutation Analysis

Stefano Volinia, Nicoletta Mascellani, [ ... ], Carlo M. Croce

CHEK2 Mutations Affecting Kinase Activity Together With Mutations in TP53 Indicate a Functional Pathway Associated with Resistance to Epirubicin in Primary Breast Cancer

Ranjan Chrisanthar, Stian Knappskog, [ ... ], Per Eystein Lønning

A Cytoplasmic Domain Mutation in ClC-Kb Affects Long-Distance Communication Across the Membrane

Gilbert Q. Martinez, Merritt Maduke

Genome-Wide Compensatory Changes Accompany Drug- Selected Mutations in the Plasmodium falciparum crt Gene

Hongying Jiang, Jigar J. Patel, [ ... ], Xin-zhuan Su

Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, [ ... ], Zi-Chun Hua

The Polycomb Protein and E3 Ubiquitin Ligase Ring1B Harbors an IRES in its Highly Conserved 5′ UTR

Erwin Boutsma, Sonja Noback, Maarten van Lohuizen

Stylus: A System for Evolutionary Experimentation Based on a Protein/Proteome Model with Non-Arbitrary Functional Constraints

Douglas D. Axe, Brendan W. Dixon, Philip Lu

Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Sigrun Roeber, Eva-Maria Grasbon-Frodl, [ ... ], Hans A. Kretzschmar

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