A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

Yuxin Fan,Jon Steller,Iris L Gonzalez,Wim Kulik,Michelle Fox,Richard Chang,Brandy A Westerfield,Anjan S Batra,Raymond Yu Jeang Wang,Natalie M Gallant,Liana S Pena,Hu Wang,Taosheng Huang, Sunita Bhuta,Daniel J Penny,Edward R McCabe,Virginia E Kimonis

JIMD REPORTS, VOL 11（2013）

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摘要

The identification of a TAZ gene mutation, mRNA analysis, and monolysocardiolipin/cardiolipin ratio determination were important for the diagnosis and genetic counseling in this family with atypical Barth syndrome that was not found to be associated with 3-methylglutaconic aciduria.

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biomedical research,bioinformatics

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