Carregant...
Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome
Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation wa...
Guardat en:
| Publicat a: | Acta Myol |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Pacini Editore Srl
2021
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8290511/ https://ncbi.nlm.nih.gov/pubmed/34355125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-047 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|