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

2015 ◽  
Vol 53 (11) ◽  
Author(s):  
Gianpietro Giorgi ◽  
Alberto Casarin ◽  
Eva Trevisson ◽  
Marta Donà ◽  
Matteo Cassina ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Population Screening ◽  
Site Mutation ◽  
Cystic Fibrosis Population ◽  
Rapid Tool ◽  
Intronic Variants

AbstractCystic fibrosis, caused by mutations of theWe have examined fiveFour out of five variants (including c.2620-26A>G which was previously reported as a possible splice-site mutation) did not alter the correct splicing of the minigene and are likely to be neutral polymorphisms, whereas c.744-6T>G caused complete skipping ofHybrid minigenes assay are a simple and rapid tool to evaluate the effects of intronic variants without the need of analyzing patient’s mRNA, and are particularly suited to analyze variants identified during population screenings.

Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis

1997 ◽  
Vol 9 (4) ◽  
pp. 332-338 ◽  
Author(s):  
W. Edward Highsmith ◽  
Lauranell H. Burch ◽  
Zhaoqing Zhou ◽  
John C. Olsen ◽  
Theresa V. Strong ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

1991 ◽  
Vol 28 (12) ◽  
pp. 878-880 ◽  
Author(s):  
M Schloesser ◽  
S Arleth ◽  
U Lenz ◽  
R M Bertele ◽  
J Reiss
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Patient ◽  
Splice Site ◽  
Nonsense Mutation ◽  
Splice Site Mutation ◽  
Site Mutation

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

1994 ◽  
Vol 3 (2) ◽  
pp. 369-370 ◽  
Author(s):  
Jean-Francois Culard ◽  
Marie Desgeorges ◽  
Marie-Catherine Romey ◽  
Perrine Malzac ◽  
Jacques Demaille ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Cystic Fibrosis Transmembrane Regulator ◽  
Cftr Gene ◽  
Site Mutation ◽  
Cystic Fibrosis Transmembrane

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

scholarly journals Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

2015 ◽  
Vol 133 (5) ◽  
pp. 511 ◽  
Author(s):  
Suma P. Shankar ◽  
David G. Birch ◽  
Richard S. Ruiz ◽  
Dianna K. Hughbanks-Wheaton ◽  
Lori S. Sullivan ◽  
...  
Keyword(s):  
Splice Site ◽  
Founder Effect ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies
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