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Frameshift mutation

Differential Requirement for irf8 in Formation of Embryonic and Adult Macrophages in Zebrafish

Celia E. Shiau, Zoe Kaufman, Ana M. Meireles, William S. Talbot

Whole Genome Sequence Analysis Suggests Intratumoral Heterogeneity in Dissemination of Breast Cancer to Lymph Nodes

Kevin Blighe, Laura Kenny, [ ... ], Jacqueline A. Shaw

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, [ ... ], Constantinos Deltas

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, [ ... ], Ping Wang

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, [ ... ], Chiea Chuen Khor

The Evolutionary Fate of the Horizontally Transferred Agrobacterial Mikimopine Synthase Gene in the Genera Nicotiana and Linaria

Viera Kovacova, Jitka Zluvova, [ ... ], Boris Vyskot

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, [ ... ], Stylianos E. Antonarakis

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, [ ... ], Wolfgang Berger

The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067

Fabian Schnitzler, Matthias Friedrich, [ ... ], Stephan Brand

Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice

Kenta Wada, Yoshibumi Matsushima, [ ... ], Yoshiaki Kikkawa

Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

Surinder M. Singh, Swati Bandi, [ ... ], Krishna M. G. Mallela

The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, [ ... ], Karsten Spiekermann

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, [ ... ], Takeshi Iwata

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