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