TY - JOUR
T1 - Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
AU - Theunissen, Tom E. J.
AU - Nguyen, Minh
AU - Kamps, Rick
AU - Hendrickx, Alexandra T.
AU - Sallevelt, Suzanne C. E. H.
AU - Gottschalk, Ralph W. H.
AU - Calis, Chantal M.
AU - Stassen, Alphons P. M.
AU - de Koning, Bart
AU - Mulder-Den Hartog, Elvira N. M.
AU - Schoonderwoerd, Kees
AU - Fuchs, Sabine A.
AU - Hilhorst-Hofstee, Yvonne
AU - de Visser, Marianne
AU - Vanoevelen, Jo
AU - Szklarczyk, Radek
AU - Gerards, Mike
AU - de Coo, Irenaeus F. M.
AU - Hellebrekers, Debby M. E.
AU - Smeets, Hubert J. M.
PY - 2018/10/12
Y1 - 2018/10/12
KW - mitochondrial disease
KW - next-generation sequencing
KW - mtDNA sequencing
KW - whole-exome sequencing
KW - diagnostic yield
KW - TRANSFER-RNA-SYNTHETASE
KW - HUMAN COMPLEX-I
KW - LEIGH-SYNDROME
KW - MOLECULAR DIAGNOSIS
KW - ASSEMBLY FACTORS
KW - LACTIC-ACIDOSIS
KW - DNA DELETIONS
KW - MUTATIONS
KW - DISEASE
KW - DISORDERS
U2 - 10.3389/fgene.2018.00400
DO - 10.3389/fgene.2018.00400
M3 - Article
C2 - 30369941
VL - 9
JO - Frontiers in Genetics
JF - Frontiers in Genetics
SN - 1664-8021
M1 - 400
ER -