TY  - GEN
AU  - Vedrenne,Vanessa
AU  - Gowher,Ali
AU  - De Lonlay,Pascale
AU  - Nitschke,Patrick
AU  - Serre,Valérie
AU  - Boddaert,Nathalie
AU  - Altuzarra,Cecilia
AU  - Mager-Heckel,Anne-Marie
AU  - Chretien,Florence
AU  - Entelis,Nina
AU  - Munnich,Arnold
AU  - Tarassov,Ivan
AU  - Rötig,Agnès
TI  - Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency
SN  - 1537-6605
PY  - 2013///0114
KW  - Adolescent
KW  - Brain
KW  - pathology
KW  - Child, Preschool
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Exons
KW  - Exoribonucleases
KW  - Female
KW  - Hep G2 Cells
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mitochondrial Diseases
KW  - diagnosis
KW  - Mutation
KW  - RNA Interference
KW  - RNA Transport
KW  - RNA, Ribosomal
KW  - metabolism
KW  - RNA, Transfer
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2012.09.001
ER  -