A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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3. Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets;Molecular and Cellular Biochemistry;2021-01-07
4. TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome;Gene;2020-02
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Barth syndrome: mechanisms and management
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