Results 181 to 190 of about 12,984 (193)

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions

Frontiers in Molecular Neuroscience, 2022
Dagmar Nolte, Adrian Danek, Maximilian Scheifele   +2 more
exaly  

Cryptic Splice Sites and Cryptic Splicing

2001
openaire   +1 more source

Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements

Neuromuscular Disorders, 2016
E. Niba, A. Nishuda, V. Tran, D. Vu, M. Matsumoto, H. Awano, T. Lee, Y. Takeshima, H. Nishio, M. Matsuo   +9 more
openaire   +1 more source

A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency

Molecular Genetics and Metabolism, 2006
Andreas Schulze
exaly  

Cryptic Splice Site

2008
openaire   +1 more source

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

European Journal of Human Genetics, 2009
Emanuele Buratti, Igor Vorechovský, Buratti Emanuele   +2 more
exaly  

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site

Journal of Human Genetics, 2010
Martin Prøven Bogsrud, Knut Erik Berge, Mari Ann Kulseth   +2 more
exaly  

Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

Human Mutation, 2014
Daniel Matějů, David Stanek
exaly  

Activation of the intronic cryptic 5′ splice site depends on its distance to the upstream cassette exon

Gene, 2017
Kefeng Dou, Xia Li
exaly  

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

Molecular and Cellular Endocrinology, 2012
Maïthé Tauber, Rogelio González-Sarmiento, Cintia Citterio   +2 more
exaly