TY  - GEN
AU  - Galmiche,Louise
AU  - Serre,Valérie
AU  - Beinat,Marine
AU  - Assouline,Zahra
AU  - Lebre,Anne-Sophie
AU  - Chretien,Dominique
AU  - Nietschke,Patrick
AU  - Benes,Vladimir
AU  - Boddaert,Nathalie
AU  - Sidi,Daniel
AU  - Brunelle,Francis
AU  - Rio,Marlène
AU  - Munnich,Arnold
AU  - Rötig,Agnès
TI  - Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
SN  - 1098-1004
PY  - 2012///0531
KW  - Base Sequence
KW  - Cardiomyopathy, Hypertrophic
KW  - genetics
KW  - DNA Mutational Analysis
KW  - DNA, Mitochondrial
KW  - chemistry
KW  - Exome
KW  - Female
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mitochondria
KW  - metabolism
KW  - Mitochondrial Diseases
KW  - Mitochondrial Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Ribosomal Proteins
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.21562
ER  -