TY  - GEN
AU  - Ferreira,Marie-Céleste
AU  - Dorboz,Imen
AU  - Boespflug-Tanguy,Odile
TI  - Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome
SN  - 1873-2933
PY  - 2016///0913
KW  - Alleles
KW  - Biomarkers
KW  - metabolism
KW  - DNA Primers
KW  - chemical synthesis
KW  - Eukaryotic Initiation Factor-2B
KW  - genetics
KW  - Exons
KW  - Gene Expression
KW  - Genotype
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Leukoencephalopathies
KW  - diagnosis
KW  - Multiplex Polymerase Chain Reaction
KW  - methods
KW  - Mutation
KW  - Protein Subunits
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.clinbiochem.2015.07.004
ER  -