Kirwin, Susan M
Tafazzin splice variants and mutations in Barth syndrome. [electronic resource]
- Molecular genetics and metabolism Jan 2014
- 26-32 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2013.11.006 doi
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