A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure

2021 ◽  
Author(s):  
Abolfazl Yari ◽  
Reza Molla Ali-Nejad ◽  
Nasrollah Saleh-Gohari
Keyword(s):  
Renal Failure ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Myoclonic Epilepsy ◽  
Site Mutation ◽  
Progressive Myoclonic Epilepsy

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

Neurology ◽  
2014 ◽  
Vol 83 (23) ◽  
pp. 2183-2187 ◽  
Author(s):  
K. Hallmann ◽  
G. Zsurka ◽  
S. Moskau-Hartmann ◽  
J. Kirschner ◽  
R. Korinthenberg ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Myoclonic Epilepsy ◽  
Site Mutation ◽  
Progressive Myoclonic Epilepsy

Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure

2021 ◽  
Author(s):  
Konstantinos Kollios ◽  
Parthena Savvidou ◽  
Aristea Karipiadou ◽  
Sofia Zagkanika ◽  
Styliani Seitanidou ◽  
...  
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

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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