scholarly journals Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

2018 ◽  
Vol 131 (13) ◽  
pp. 1575-1583 ◽  
Author(s):  
Jin He ◽  
Han Lin ◽  
Jin-Jing Li ◽  
Hui-Zhen Su ◽  
Dan-Ni Wang ◽  
...  
Keyword(s):  
Renal Failure ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus 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

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

2014 ◽  
Vol 27 (9-10) ◽  
Author(s):  
Hakan Cangul ◽  
Halil Saglam ◽  
Yaman Saglam ◽  
Erdal Eren ◽  
Durmus Dogan ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Thyroid Dysgenesis ◽  
Tshr Gene
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