Results 241 to 250 of about 91,518 (258)

The splice is not right: splice-site-creating mutations in cancer genomes

2018
openaire   +2 more sources

Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

American Journal of Human Genetics, 1999
Peter H. Byers, Ulrike Schwarze
exaly  

Severe splice site mutation preceding exon 9 of the CFTR gene

Human Molecular Genetics, 1993
Burkhard Tümmler, Thilo Dörk, R Fislage   +2 more
exaly  

Identification and characterization of a novel splice-site mutation in the Wilson disease gene

Journal of the Neurological Sciences, 2014
Mingfan Hong, Zhong-Xing Peng, Qing-Yun Yu   +2 more
exaly  

Splice Site Mutation

2011
openaire   +1 more source

Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A→G Splice-Donor–Site Mutation at Position +3 of the Collagenlike-Tail–Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing?

American Journal of Human Genetics, 1999
Kinji Ohno, Joan M Brengman, Kevin J Felice   +2 more
exaly  

Splice Site Mutation

2006
openaire   +1 more source

A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

Human Genetics, 2001
O Sakamoto, Shigeaki Miyabayashi, Toshihiro Ohura   +2 more
exaly  

A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation

Cell, 1986
Alan M Weiner
exaly  

Frame Shift Mutation, Exon Skipping, and a Two-Codon Deletion Caused by Splice Site Mutations Account for Pyruvate Kinase Deficiency

Blood, 1997
Ichiro Tsukimoto, Li Chong Chan, Akira Hirono   +2 more
exaly