insertional mutation
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Extra-repeat insertional mutation in the PRNP gene with cerebral amyloid angiopathy: A case report

2021 ◽  
Vol 429 ◽  
pp. 118253
Author(s):  
Federica Cencini ◽  
Giuseppe Di Fede ◽  
Marcella Catania ◽  
Chiara Manfredi ◽  
Chiara Rosci ◽  
...  
Keyword(s):  
Case Report ◽  
Cerebral Amyloid Angiopathy ◽  
Prnp Gene ◽  
Amyloid Angiopathy ◽  
Insertional Mutation ◽  
Cerebral Amyloid

scholarly journals Inherited Creutzfeldt–Jakob disease with four-octapeptide repeat insertional mutation in the prion gene

2021 ◽  
Author(s):  
Mika Douzono ◽  
Yasuyuki Nobuhara ◽  
Kyouko Maruta ◽  
Yuji Okamoto ◽  
Yoshito Sonoda ◽  
...  
Keyword(s):  
Prion Gene ◽  
Insertional Mutation ◽  
Jakob Disease

scholarly journals Extending julius seizure, a bang-sensitive gene, as a model for studying epileptogenesis: Cold shock, and a new insertional mutation

Fly ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Derek Dean ◽  
Hannah Weinstein ◽  
Seema Amin ◽  
Breelyn Karno ◽  
Emma McAvoy ◽  
...  
Keyword(s):  
Cold Shock ◽  
Insertional Mutation

scholarly journals Transposon insertion mapping with PIMMS – Pragmatic Insertional Mutation Mapping System

2015 ◽  
Vol 06 ◽  
Author(s):  
Adam M. Blanchard ◽  
James A. Leigh ◽  
Sharon A. Egan ◽  
Richard D. Emes
Keyword(s):  
Insertional Mutation ◽  
Transposon Insertion ◽  
Mapping System ◽  
Mutation Mapping

scholarly journals Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

Prion ◽  
2013 ◽  
Vol 7 (6) ◽  
pp. 501-510 ◽  
Author(s):  
Martin Paucar ◽  
Fengqing Xiang ◽  
Richard Moore ◽  
Ruth H Walker ◽  
Elisabeth Winnberg ◽  
...  
Keyword(s):  
Prion Disease ◽  
Insertional Mutation ◽  
Phenotype Analysis

scholarly journals Head Bobber: An Insertional Mutation Causes Inner Ear Defects, Hyperactive Circling, and Deafness

2012 ◽  
Vol 13 (3) ◽  
pp. 335-349 ◽  
Author(s):  
Giuseppina Somma ◽  
Heather M. Alger ◽  
Ryan M. McGuire ◽  
Jim D. Kretlow ◽  
Fernanda R. Ruiz ◽  
...  
Keyword(s):  
Inner Ear ◽  
Insertional Mutation
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