Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al

Saved in:
Bibliographic Details
Published in:Human mutation 2017-05, Vol.38 (5), p.511-516
Main Authors: Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle
Format: Article
Language:English
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:
ISSN:1059-7794
DOI:10.1002/humu.23196