Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin
Heather M
HM
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Sakaguchi
Reiko
R
Liu
Cuiping
C
Igarashi
Takao
T
Pehlivan
Davut
D
Chu
Kristine
K
Iyer
Ram
R
Cruz
Pedro
P
Cherukuri
Praveen F
PF
Hansen
Nancy F
NF
Mullikin
James C
JC
Biesecker
Leslie G
LG
Wilson
Thomas E
TE
Ionasescu
Victor
V
Nicholson
Garth
G
Searby
Charles
C
Talbot
Kevin
K
Vance
Jeffrey M
JM
Züchner
Stephan
S
Szigeti
Kinga
K
Lupski
James R
JR
Hou
Ya-Ming
YM
Green
Eric D
ED
Antonellis
Anthony
A