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Research article

First published 2010-1

No Mutation Detected in Five Hot Spot Codons of the Tp53 Gene by Restriction Site Mutation Analysis in Patients with Carcinoma of the Tongue

Hemangini H. Vora, Shalvi V. Mehta, Shilin N. Shukla [...]

The International Journal of Biological Markers

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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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Other

First published 2005-11

MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta

D. Ozdemir, P.S. Hart, O.H. Ryu [...]

Journal of Dental Research

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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 2002-01

Mutational Analysis of the Phosphorylation Sites of the Aie1 (Aurora-C) Kinase in Vitro

Sheau-Hu Chen, Tang K. Tang

DNA and Cell Biology

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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 1987-06

Use of λ Exonuclease for Efficient Oligonucleotide-Mediated Site-Directed Deletion and Point Mutation of Double-Stranded DNA

D.P. Palermo, G.F. Hess

DNA and Cell Biology

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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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