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Mutation

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, [ ... ], Laura Bannach Jardim

A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide Association Study Is Responsible for Inherited Rickets in Corriedale Sheep

Xia Zhao, Keren E. Dittmer, [ ... ], Dorian J. Garrick

Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late

Suzan M. Hammond, Rocky G. Gogliotti, [ ... ], Christine J. DiDonato

An Investigation of a Role for U2 snRNP Spliceosomal Components in Regulating Transcription

Susannah L. McKay, Tracy L. Johnson

Targeted Gene Deletion of miRNAs in Mice by TALEN System

Shuji Takada, Tempei Sato, [ ... ], Hiroshi Asahara

TOX3 Mutations in Breast Cancer

James Owain Jones, Suet-Feung Chin, [ ... ], Ana-Teresa Maia

MSH3-Deficiency Initiates EMAST without Oncogenic Transformation of Human Colon Epithelial Cells

Christoph Campregher, Gerald Schmid, [ ... ], Christoph Gasche

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function

Abhinaya Iyer, Nichole E. LaPointe, [ ... ], Cezary Żekanowski

Sperm from Hyh Mice Carrying a Point Mutation in αSNAP Have a Defect in Acrosome Reaction

Luis Federico Bátiz, Gerardo A. De Blas, [ ... ], Luis S. Mayorga

Mapping and Exome Sequencing Identifies a Mutation in the IARS Gene as the Cause of Hereditary Perinatal Weak Calf Syndrome

Takashi Hirano, Naohiko Kobayashi, [ ... ], Yoshikazu Sugimoto

A Comparison of Aggregatibacter actinomycetemcomitans (Aa) Virulence Traits in a Rat Model for Periodontal Disease

Helen Schreiner, Yu Li, [ ... ], Daniel H. Fine

A Laterally Acquired Galactose Oxidase-Like Gene Is Required for Aerial Development during Osmotic Stress in Streptomyces coelicolor

Recep Liman, Paul D. Facey, [ ... ], Ricardo Del Sol

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