TY  - GEN
AU  - Lahrouchi,Najim
AU  - Lodder,Elisabeth M
AU  - Mansouri,Maria
AU  - Tadros,Rafik
AU  - Zniber,Layla
AU  - Adadi,Najlae
AU  - Clur,Sally-Ann B
AU  - van Spaendonck-Zwarts,Karin Y
AU  - Postma,Alex V
AU  - Sefiani,Abdelaziz
AU  - Ratbi,Ilham
AU  - Bezzina,Connie R
TI  - Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
SN  - 1476-5438
PY  - 2017///0912
KW  - Adult
KW  - Cardiomyopathies
KW  - diagnosis
KW  - Carnitine
KW  - blood
KW  - Codon, Terminator
KW  - genetics
KW  - Death, Sudden
KW  - Exome
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Organic Cation Transport Proteins
KW  - Pedigree
KW  - Solute Carrier Family 22 Member 5
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2017.22
ER  -