Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Abstract excerpt

Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome pedigrees for mutations in G4.5 and have identified unique mutations in all, including four splice-site mutations, three deletions, one insertion, five missense...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to DNA Primers
• Share to Genetic Linkage
• Share to Genetic Markers