Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

2011 ◽  
Vol 155 (4) ◽  
pp. 924-927 ◽  
Author(s):  
Helena Simões-Teixeira ◽  
Tiago D. Matos ◽  
Marta Canas Marques ◽  
Óscar Dias ◽  
Mário Andrea ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Pendred Syndrome ◽  
Site Mutation ◽  
Slc26a4 Gene

scholarly journals Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

2019 ◽  
Vol 40 ◽  
pp. 101524 ◽  
Author(s):  
Yen-Fu Cheng ◽  
Yen-Hui Chan ◽  
Chin-Ju Hu ◽  
Ying-Chang Lu ◽  
Tsubasa Saeki ◽  
...  
Keyword(s):  
Cell Line ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Syndrome Patient ◽  
Pendred Syndrome ◽  
Site Mutation ◽  
Ips Cell

Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome

1999 ◽  
Vol 14 (6) ◽  
pp. 520-526 ◽  
Author(s):  
N�ria L�pez-Bigas ◽  
Raquel Rabionet ◽  
Rafael de Cid ◽  
Nancy Govea ◽  
Paolo Gasparini ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Pendred Syndrome ◽  
Site Mutation ◽  
Intrafamilial Variability

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
Sign in / Sign up

Export Citation Format

Share Document