A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Kategoria artykułu: Case Report

Data publikacji: 31 gru 2016

Zakres stron: 95 - 100

DOI: https://doi.org/10.1515/bjmg-2016-0043

Słowa kluczowe

Barth Syndrome (BTHS), cardiomyopathy, Neutropenia, 3-Methylglutaconin aciduria, () gene

© 2016 Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V

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