Results 141 to 149 of about 6,757 (149)

A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay

International Journal of Ophthalmology, 2023
exaly  

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

Frontiers in Genetics, 2020
Zhiying Liu, Ruixiao Zhang, Irène Bottillo   +2 more
exaly  

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

Clinical Chemistry and Laboratory Medicine, 2015
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +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  

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  

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

Frontiers in Pediatrics
Huiqing Ding, Ding Huiqing
exaly  

Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I

Injury, 2019
Zhihong Wang, Fenghua Lan, Yuxiang Lin   +2 more
exaly  

A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2

Frontiers in Genetics
Jinghui Jiang
exaly  

Minigene splicing reporter assay: An interesting and useful approach for genetic diagnosis in familial hypobetalipoproteinemia

Atherosclerosis
Zoé Henry, Alexandre Janin, Severine Nony, Oriane Marmontel, Marie Marrec, Sybil Charriere, Philippe Moulin, Bertrand Cariou, Mathilde Di Filippo   +8 more
openaire   +1 more source