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Research article

First published 2013-11

BaxΔ2 Family Alternative Splicing Salvages Bax Microsatellite-Frameshift Mutations

Bonnie Haferkamp, Honghong Zhang, Samuel Kissinger [...]

Genes & Cancer

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Research article

First published 2014-7

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

Petra Laššuthová, Markéta Žaliová, Ken Inoue [...]

Journal of Child Neurology

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Research article

First published 2013-1

GT198 Splice Variants Display Dominant-Negative Activities and Are Induced by Inactivating Mutations

Min Peng, Zheqiong Yang, Hao Zhang [...]

Genes & Cancer

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Research article

First published 2002-2

Splicing Mutations in TP53 in Human Squamous Cell Carcinoma Lines Influence Immunohistochemical Detection

Wolfgang Eicheler, Daniel Zips, Annegret Dörfler [...]

Journal of Histochemistry & Cytochemistry

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Other

First published 2008-08

Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene

Stefano Sartori, Laura Anesi, Roberta Polli [...]

Journal of Child Neurology

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Research article

First published 2019-01-08

Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

Gamze Guven, Başar Bilgic, Zeynep Tufekcioglu [...]

Journal of Alzheimer’s Disease

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Case report

First published 2016-9

A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant

Gianluca Caridi, Wolfgang Thomas, Monica Campagnoli [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2016-7-13

A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy

Celeste Sassi, Rosa Capozzo, Raphael Gibbs [...]

Journal of Alzheimer’s Disease

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Research article

First published 2021-07

A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma

Xiaoyan Guo, Shunyou Chen, Mingrui Lin [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2009-04

RNA Analysis of Consensus Sequence Splicing Mutations: Implications for the Diagnosis of Wilson Disease

Mario Lovicu, Maria Barbara Lepori, Simona Incollu [...]

Genetic Testing and Molecular Biomarkers

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