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

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 is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population

2009 ◽  
Vol 22 (5) ◽  
pp. 645-647 ◽  
Author(s):  
Androuw Carrasco ◽  
Elaine M. Forbes ◽  
Pascale Jeambrun ◽  
Murray H. Brilliant
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Oculocutaneous Albinism ◽  
Site Mutation ◽  
High Prevalence

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

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2

2013 ◽  
Vol 34 (9) ◽  
pp. 1629-1632 ◽  
Author(s):  
Kwang-Dong Choi ◽  
Ji-Won Yook ◽  
Min-Ji Kim ◽  
Hyang-Sook Kim ◽  
Young-Eun Park ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Episodic Ataxia ◽  
Site Mutation ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

scholarly journals A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Monica Cattaneo ◽  
Lucia La Sala ◽  
Maurizio Rondinelli ◽  
Edoardo Errichiello ◽  
Orsetta Zuffardi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Wolfram Syndrome ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Site Mutation ◽  
Donor Splice

scholarly journals Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation inPpp2r2aResults in a Novel Digenic Mouse Model of Type 2 Diabetes

Diabetes ◽  
2016 ◽  
Vol 65 (5) ◽  
pp. 1434-1446 ◽  
Author(s):  
Michelle Goldsworthy ◽  
Ying Bai ◽  
Chi-Ming Li ◽  
Huanying Ge ◽  
Edwin Lamas ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Mouse Model ◽  
Insulin Receptor ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation
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