Results 201 to 210 of about 606,407 (214)

A Common Human β Globin Splicing Mutation Modeled in Mice

Blood, 1998
Oliver Smithies, Ryszard Kole, Halina Sierakowska   +2 more
exaly  

A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights

Investigative Ophthalmology and Visual Science, 2015
Alexandra Koschak, Giovanni Provenzano, Michela A. Denti   +2 more
exaly  

A novel splicing mutation (894-9 G→A) of the gene responsible for multiple endocrine neoplasia type 1

Cancer Letters, 1999
T Kosuge, Takao Obara, Toshihiko Tsukada
exaly  

Identification and functional characterization of a novel splicing mutation in RP gene

Biochemical and Biophysical Research Communications, 2008
Jing Yu Liu
exaly  

Functional studies of a novel Germline p53 splicing mutation identified in a patient with Li–Fraumeni-Like syndrome

Molecular Carcinogenesis, 2013
Masatoshi Takagi, Shotaro Iwamoto, Naoto Sakurai   +2 more
exaly  

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides

Human Mutation, 2016
Margarida Duarte Amaral, Hugo M. Botelho, Susana C Igreja   +2 more
exaly  

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations

Journal of Cystic Fibrosis, 2016
Verónica Felício, Margarida Duarte Amaral, Anabela S Ramalho   +2 more
exaly  

A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2009
Peter Jordan, Vânia Gonçalves
exaly  

Characterization and mRNA expression analysis of a novel splicing mutation causing hyperargininemia

Clinical Biochemistry, 2015
Felix-Julián Campos-Garcia, Vanessa Villegas-Ruíz, Juan C Zenteno   +2 more
exaly  

Aberrant Splicing and Premature Termination of Transcription of the FVIII Gene as a Cause of Severe Canine Hemophilia A: Similarities with the Intron 22 Inversion Mutation in Human Hemophilia

Thrombosis and Haemostasis, 2002
David Lillicrap
exaly