scholarly journals A 3' splice site mutation in a nuclear gene encoding a mitochondrial ribosomal protein in Neurospora crassa.

1988 ◽  
Vol 263 (6) ◽  
pp. 2848-2852 ◽  
Author(s):  
M T Kuiper ◽  
M Holtrop ◽  
H Vennema ◽  
A M Lambowitz ◽  
H de Vries
Keyword(s):  
Ribosomal Protein ◽  
Neurospora Crassa ◽  
Splice Site ◽  
Nuclear Gene ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Gene Encoding ◽  
Mitochondrial Ribosomal Protein

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

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

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

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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