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Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome
Larysa Sivitskaya
, Nina Danilenko
, Iryna Motuk
, Nikolai Zhelev (Lead / Corresponding author)
Research output
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Contribution to journal
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Article
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peer-review
130
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Keyphrases
Gene-gene
100%
Splicing mutation
100%
Exon Skipping
100%
Tafazzin Gene
100%
Barth Syndrome
100%
Neutropenia
50%
Exon 3
50%
Frameshift
25%
Genetic Screening
25%
Functional Analysis
25%
Cardiomyopathy
25%
Clinical Phenotype
25%
X-linked Disorder
25%
Monogenic
25%
Skeletal Myopathy
25%
Growth Retardation
25%
Complete Excision
25%
3-year-olds
25%
Aberrant Splicing
25%
Dilated Cardiomyopathy
25%
Cardiolipin
25%
Tafazzin
25%
Splicing Alteration
25%
Gene mutation Carrier
25%
Medicine and Dentistry
Exon Skipping
100%
Tafazzin
100%
Barth Syndrome
100%
Exon
40%
Neutropenia
40%
Gene Mutation
20%
Intron
20%
Genetic Screening
20%
Growth Retardation
20%
Myopathy
20%
Dilated Cardiomyopathy
20%
X Chromosome Linked Disorder
20%
Myocardial Disease
20%
Cardiolipin
20%
Messenger RNA
20%
Biochemistry, Genetics and Molecular Biology
Exon Skipping
100%
Tafazzin
100%
Exon
40%
Gene Mutation
20%
Intron
20%
Genetic Screening
20%
Messenger RNA
20%
Cardiolipin
20%
Deficiency
20%