Results 151 to 160 of about 4,405 (166)

Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress

International Journal of Molecular Sciences, 2021
Michael Hecker, Peter A Lorenz, Uwe Zettl   +2 more
exaly  

Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay

Human Mutation, 2021
Zhiying Liu, Ruixiao Zhang, Irène Bottillo   +2 more
exaly  

Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T

Clinical Chemistry and Laboratory Medicine, 2023
Mathilde Di Filippo, Severine Nony
exaly  

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

Frontiers in Genetics, 2021
Zhuan Liao, Emmanuelle Masson, Claude Férec   +2 more
exaly  

Genetic Analysis and Minigene Splicing Assay of a New Splicing Variant of the COL4A5 Gene Causing Alport Syndrome

Journal of the American Society of Nephrology, 2023
openaire   +1 more source

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Human Mutation, 2020
Nicolas Levy, Svetlana Gorokhova, Aurelia Defour   +2 more
exaly  

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

Molecular Genetics & Genomic Medicine, 2015
A M L Jansen
exaly  

Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene

International Journal of Molecular Sciences, 2020
Masafumi Matsuo, Hisahide Nishio, Kazumichi Fujioka   +2 more
exaly  

Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype

Clinical Chemistry and Laboratory Medicine, 2016
Zhihong Wang, Fenghua Lan, Yanhong Lin   +2 more
exaly  

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Haemophilia, 2019
Yohann Jourdy, Christine Vinciguerra, Claude Negrier   +2 more
exaly