A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher

2012 ◽  
Vol 131 (8) ◽  
pp. 1319-1325 ◽  
Author(s):  
Kathryn M. Meurs ◽  
Sunshine Lahmers ◽  
Bruce W. Keene ◽  
Stephen N. White ◽  
Mark A. Oyama ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Splice Site ◽  
Mitochondrial Protein ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Gene Encoding ◽  
Doberman Pinscher

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

1997 ◽  
Vol 236 (3) ◽  
pp. 544-548 ◽  
Author(s):  
Ellen A.C.M. van Beurden ◽  
Michelle de Graaf ◽  
Udo Wendel ◽  
Richard Gitzelmann ◽  
Ruud Berger ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Phosphorylase Kinase ◽  
Site Mutation ◽  
Gene Encoding ◽  
Gamma Subunit

scholarly journals A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2

2020 ◽  
Vol 24 (3) ◽  
pp. 299-305
Author(s):  
D. E. Ivanoshchuk ◽  
E. V. Shakhtshneider ◽  
A. K. Ovsyannikova ◽  
S. V. Mikhailova ◽  
O. D. Rymar ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Gene Encoding

scholarly journals A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

2016 ◽  
Vol 19 (2) ◽  
pp. 95-100 ◽  
Author(s):  
M Bakšienė ◽  
E Benušienė ◽  
A Morkūnienė ◽  
L Ambrozaitytė ◽  
A Utkus ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Splice Site ◽  
Energy Production ◽  
Splice Site Mutation ◽  
Barth Syndrome ◽  
Site Mutation ◽  
Cyclic Neutropenia ◽  
Skeletal Myopathy ◽  
Intronic Splice Site ◽  
Tafazzin Gene

AbstractBarth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.

Familial Dilated Cardiomyopathy Secondary to Dystrophin Splice Site Mutation

2010 ◽  
Vol 16 (3) ◽  
pp. 194-199 ◽  
Author(s):  
Dita Obler ◽  
Bai-Lin Wu ◽  
Va Lip ◽  
Elicia Estrella ◽  
Sally Keck ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Familial Dilated Cardiomyopathy

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
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