[HTML][HTML] Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on …

T Płatek, M Sordyl, A Polus, A Olszanecka… - Mutation Research …, 2023 - Elsevier
Barth syndrome is a rare disease affecting mitochondria structure and function in males. In
our previous study, we have shown a new mutation (c. 83T> A, p. Val28Glu) in the TAZ gene …

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on …

T Płatek, M Sordyl, A Polus… - Mutation Research …, 2023 - ui.adsabs.harvard.edu
Barth syndrome is a rare disease affecting mitochondria structure and function in males. In
our previous study, we have shown a new mutation (c. 83T> A, p. Val28Glu) in the TAZ gene …

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on …

T Płatek, M Sordyl, A Polus, A Olszanecka… - Mutation …, 2023 - pubmed.ncbi.nlm.nih.gov
Barth syndrome is a rare disease affecting mitochondria structure and function in males. In
our previous study, we have shown a new mutation (c. 83T> A, p. Val28Glu) in the TAZ gene …

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on …

T Płatek, M Sordyl, A Polus, A Olszanecka… - Mutation …, 2022 - europepmc.org
Barth syndrome is a rare disease affecting mitochondria structure and function in males. In
our previous study, we have shown a new mutation (c. 83T> A, p. Val28Glu) in the TAZ gene …

[引用][C] Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on …

T Płatek, M Sordyl, A Polus, A Olszanecka… - Mutation Research …, 2023 - ruj.uj.edu.pl
Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing
in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected …