Tafazzin splice variants and mutations in Barth syndrome. [electronic resource]
Producer: 20140915Description: 26-32 p. digitalISSN:- 1096-7206
- Acyltransferases
- Alternative Splicing
- Amino Acid Substitution
- Barth Syndrome -- genetics
- Blood Specimen Collection
- Chromosomes, Human, X
- Exons
- Female
- Humans
- Introns
- Male
- Mutation, Missense
- Protein Isoforms -- genetics
- RNA Isoforms -- metabolism
- RNA, Messenger -- metabolism
- Transcription Factors -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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