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Missense mutation

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

Christine S. van der Werf, Nai-Hua Hsiao, [ ... ], Sven C. D. van IJzendoorn

Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E

Robert J. MacInnis, Gianluca Severi, [ ... ], Graham G. Giles

Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma

Frédérique Végran, Magali Rebucci, [ ... ], Sarab Lizard-Nacol

Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Shih-Kai Wang, Hui-Chen Chan, [ ... ], Jan C-C. Hu

Dysferlin-Peptides Reallocate Mutated Dysferlin Thereby Restoring Function

Verena Schoewel, Andreas Marg, [ ... ], Simone Spuler

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Marka van Blitterswijk, Lotte Vlam, [ ... ], Leonard H. van den Berg

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Marga Sturm, Diran Herebian, [ ... ], Ute Spiekerkoetter

Origins of Albino and Hooded Rats: Implications from Molecular Genetic Analysis across Modern Laboratory Rat Strains

Takashi Kuramoto, Satoshi Nakanishi, [ ... ], Tadao Serikawa

AvrRpm1 Missense Mutations Weakly Activate RPS2-Mediated Immune Response in Arabidopsis thaliana

Karen A. Cherkis, Brenda R. S. Temple, [ ... ], Jeffery L. Dangl

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, [ ... ], Bing-Wen Soong

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

Agata Podhajska, Alessandra Musso, [ ... ], Darren J. Moore

Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, [ ... ], Xueying Zhou

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