TY  - GEN
AU  - Kirwin,Susan M
AU  - Manolakos,Athena
AU  - Barnett,Sarah Swain
AU  - Gonzalez,Iris L
TI  - Tafazzin splice variants and mutations in Barth syndrome
SN  - 1096-7206
PY  - 2014///0915
KW  - Acyltransferases
KW  - Alternative Splicing
KW  - Amino Acid Substitution
KW  - Barth Syndrome
KW  - genetics
KW  - Blood Specimen Collection
KW  - Chromosomes, Human, X
KW  - Exons
KW  - Female
KW  - Humans
KW  - Introns
KW  - Male
KW  - Mutation, Missense
KW  - Protein Isoforms
KW  - RNA Isoforms
KW  - metabolism
KW  - RNA, Messenger
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2013.11.006
ER  -