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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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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 2004-06

Characterization of Two Novel BRCA1 Germ-Line Mutations Involving Splice Donor Sites

M.S. Brose, P. Volpe, K. Paul [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-01

A G-to-T Transversion at the Splice Acceptor Site of Dystrophin Exon 14 Shows Multiple Splicing Outcomes That Are Not Exemplified by Transition Mutations

Mitsunori Ota, Yasuhiro Takeshima, Atsushi Nishida [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2012-1

Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084+1G>A): Case Report

Ilana Traynis, Jonathan A. Bernstein, Phyllis Gardner [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2012-07

A Novel Splice Site and Two Known Mutations of Androgen Receptor Gene in Sex-Reversed XY Phenotype

Vidya Rendheer Vasu, Balachandran Saranya, Meena Jayashankar [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2004-12

Identification of a Novel EYA1 Splice-Site Mutation in a Danish Branchio-Oto-Renal Syndrome Family

Ann Marie Henriksen, Zeynep Tümer, Niels Tommerup [...]

Genetic Testing and Molecular Biomarkers

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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 2018-12

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A

Ralph Slijkerman, Alexander Goloborodko, Sanne Broekman [...]

Zebrafish

Free access

Case report

First published 2011-1

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia

A Jelassi, A Slimani, I Jguirim [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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