X chromosome inactivation in carriers of Barth syndrome.

Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found. No correlation bet...

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Bibliografische gegevens
Hoofdauteurs: Orstavik, K H, Orstavik, R E, Naumova, A K, D'Adamo, P, Gedeon, A, Bolhuis, P A, Barth, P G, Toniolo, D
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1998
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377557/
https://ncbi.nlm.nih.gov/pubmed/9792874
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