TY  - GEN
AU  - Latour,Philippe
AU  - Thauvin-Robinet,Christel
AU  - Baudelet-Méry,Chantal
AU  - Soichot,Pierre
AU  - Cusin,Veronica
AU  - Faivre,Laurence
AU  - Locatelli,Marie-Claire
AU  - Mayençon,Martine
AU  - Sarcey,Annie
AU  - Broussolle,Emmanuel
AU  - Camu,William
AU  - David,Albert
AU  - Rousson,Robert
TI  - A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
SN  - 1537-6605
PY  - 2010///0225
KW  - Adolescent
KW  - Adult
KW  - Alanine-tRNA Ligase
KW  - genetics
KW  - Amino Acid Sequence
KW  - Aminoacylation
KW  - Axons
KW  - metabolism
KW  - Charcot-Marie-Tooth Disease
KW  - Child
KW  - Cohort Studies
KW  - Cytoplasm
KW  - Genes, Dominant
KW  - Humans
KW  - Lod Score
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2009.12.005
ER  -