scholarly journals Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond‐Blackfan anaemia

eJHaem ◽  
2022 ◽  
Author(s):  
Akie Kobayashi ◽  
Ryusei Ohtaka ◽  
Tsutomu Toki ◽  
Junichi Hara ◽  
Hideki Muramatsu ◽  
...  
Keyword(s):  
Splicing Mutation ◽  
Diamond Blackfan Anaemia

Novel splicing mutation in FKBP10 gene in a patient with moderate/severe form of osteogenesis imperfecta

2013 ◽  
Author(s):  
Venturi Giacomo ◽  
Gandini Alberto ◽  
Monti Elena ◽  
Corradi Massimiliano ◽  
Vincenzi Monica ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Splicing Mutation

CRISPR/Cas9-mediated genome editing of splicing mutation causing congenital hearing loss

Gene ◽  
2019 ◽  
Vol 703 ◽  
pp. 83-90 ◽  
Author(s):  
Nari Ryu ◽  
Min-A Kim ◽  
Deok-Gyun Choi ◽  
Ye-Ri Kim ◽  
Jong Kyung Sonn ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genome Editing ◽  
Splicing Mutation ◽  
Congenital Hearing Loss

scholarly journals The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence

2008 ◽  
Vol 1 (1) ◽  
pp. 3 ◽  
Author(s):  
Jason M Bechtel ◽  
Preeti Rajesh ◽  
Irina Ilikchyan ◽  
Ying Deng ◽  
Pankaj K Mishra ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Splicing Mutation ◽  
Mutation Database

scholarly journals Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy

PLoS ONE ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. e0138200 ◽  
Author(s):  
Serena Macrì ◽  
Elisa Pavesi ◽  
Rossella Crescitelli ◽  
Anna Aspesi ◽  
Claudia Vizziello ◽  
...  
Keyword(s):  
Extracellular Vesicles ◽  
Diagnostic Strategy ◽  
Erythroid Progenitor ◽  
Diamond Blackfan Anaemia

Automated splicing mutation analysis by information theory

2008 ◽  
Vol 29 (9) ◽  
pp. 1168-1168 ◽  
Author(s):  
Vijay K. Nalla ◽  
Peter K. Rogan
Keyword(s):  
Information Theory ◽  
Mutation Analysis ◽  
Splicing Mutation
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